324:
301:
198:
223:
2513:
575:
330:
229:
31:
2834:
1434:. Response to treatment is variable and the long-term and functional outcome is unknown. To provide a basis for improving the understanding of the epidemiology, genotype/phenotype correlation and outcome of these diseases their impact on the quality of life of patients, and for evaluating diagnostic and therapeutic strategies a patient registry was established by the noncommercial
1079:
57:
1052:
Sepiapterin reductase (7,8-dihydrobiopterin:NADP oxidoreductase; EC 1.1.1.153) catalyzes the NADPH-dependent reduction of various carbonyl substances, including derivatives of pteridines, and belongs to a group of enzymes called
2866:
2225:
Steinberger D, Blau N, Goriuonov D, Bitsch J, Zuker M, Hummel S, et al. (2005). "Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia".
1435:
1532:
Ichinose H, Katoh S, Sueoka T, Titani K, Fujita K, Nagatsu T (Oct 1991). "Cloning and sequencing of cDNA encoding human sepiapterin reductase--an enzyme involved in tetrahydrobiopterin biosynthesis".
2859:
2028:
Blau N, Thöny B, Renneberg A, Penzien JM, Hyland K, Hoffmann GF (1999). "Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loading".
2852:
1811:
Thöny B, Heizmann CW, Mattei MG (1995). "Human GTP-cyclohydrolase I gene and sepiapterin reductase gene map to region 14q21-q22 and 2p14-p12, respectively, by in situ hybridization".
1300:
1904:
Maier J, Schott K, Werner T, Bacher A, Ziegler I (1993). "Detection of a novel sepiapterin reductase mRNA: assay of mRNA in various cells and tissues of various species".
2349:
Farrugia R, Scerri CA, Montalto SA, Parascandolo R, Neville BG, Felice AE (2007). "Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the
Maltese population".
1933:
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library".
1232:
337:
236:
1251:
2512:
2108:
Fujimoto K, Takahashi SY, Katoh S (2002). "Mutational analysis of sites in sepiapterin reductase phosphorylated by Ca/calmodulin-dependent protein kinase II".
2308:"The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations"
2067:"Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia"
1326:
773:
159:
754:
1999:
Ohye T, Hori TA, Katoh S, Nagatsu T, Ichinose H (1998). "Genomic organization and chromosomal localization of the human sepiapterin reductase gene".
1869:
Maier J, Schott K, Werner T, Bacher A, Ziegler I (1993). "Northern Blot
Analysis of Sepiapterin Reductase mRNA in Mammalian Cell Lines and Tissues".
2956:
2492:
1886:
1514:
1496:
3337:
1962:
Blau N, Thöny B, Renneberg A, Arnold LA, Hyland K (1998). "Dihydropteridine reductase deficiency localized to the central nervous system".
1840:
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides".
3352:
3247:
3128:
323:
971:
2924:
2553:
978:
300:
1244:
3347:
1778:"Biosynthesis of tetrahydrobiopterin. Purification and characterization of 6-pyruvoyl-tetrahydropterin synthase from human liver"
1627:
1387:
3115:
1483:
1462:
1195:
1171:
2709:
1479:
222:
197:
54:
2824:
1458:
139:
3050:
2993:
1310:
336:
235:
2694:
2810:
2797:
2784:
2771:
2758:
2745:
2732:
2485:
1189:
2704:
329:
228:
3105:
3027:
2658:
2601:
1306:
1094:
818:
147:
1176:
2265:"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)"
3186:
3110:
2906:
2883:
2606:
799:
1256:
1285:
1164:
2627:
2546:
1390:, a rare disease. The clinical phenotype can include progressive psychomotor retardation, altered tone,
2699:
1642:"BRENDA - Information on EC 1.1.1.153 - sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming)"
3242:
2478:
2150:
1718:
Katoh S (1971). "Sepiapterin
Reductase from Horse Liver: Purification and Properties of the Enzyme".
1580:
211:
126:
1192:
3230:
3078:
2844:
2663:
1655:
Pearl PL, Taylor JL, Trzcinski S, Sokohl A (May 2007). "The pediatric neurotransmitter disorders".
1373:
1318:
1116:
1058:
1054:
130:, SDR38C1, sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase), sepiapterin reductase
2596:
2251:
2053:
1987:
1682:
171:
2139:"Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences"
935:
909:
888:
3342:
3209:
3037:
2450:
2429:
2409:
2366:
2337:
2294:
2243:
2213:
2178:
2137:
Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, et al. (2003).
2125:
2096:
2045:
2016:
1979:
1950:
1921:
1892:
1882:
1857:
1828:
1799:
1764:
1735:
1674:
1606:
1549:
1415:
1361:
1277:
1183:
119:
47:
3065:
2642:
2637:
2611:
2539:
2399:
2391:
2358:
2327:
2319:
2284:
2276:
2235:
2203:
2168:
2158:
2117:
2086:
2078:
2037:
2008:
1971:
1942:
1913:
1874:
1849:
1820:
1789:
1756:
1727:
1666:
1596:
1588:
1567:
Persson B, Kallberg Y, Bray JE, Bruford E, Dellaporta SL, Favia AD, et al. (Feb 2009).
1541:
1345:
1152:
416:
347:
291:
246:
1569:"The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative"
2689:
2673:
2586:
1423:
1399:
1395:
1365:
1128:
391:
2263:
Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, et al. (2004).
1099:
167:
2190:
Franscini N, Bachli EB, Blau N, Fischler M, Walter RB, Schaffner A, et al. (2005).
2154:
1777:
1584:
574:
2838:
2727:
2668:
2404:
2379:
2332:
2307:
2208:
2191:
2091:
2066:
1794:
1657:
1641:
1601:
1568:
1349:
1341:
1337:
1227:
2306:
Sharma M, Mueller JC, Zimprich A, Lichtner P, Hofer A, Leitner P, et al. (2006).
2289:
2264:
2173:
2138:
2121:
1946:
1731:
1207:
688:
683:
678:
662:
657:
652:
647:
631:
626:
621:
616:
3331:
3289:
2632:
2591:
2459:
2438:
1853:
1824:
1760:
1545:
1202:
603:
2057:
1991:
1686:
30:
2581:
2395:
2380:"Sepiapterin reductase expression is increased in Parkinson's disease brain tissue"
2255:
1628:"Entrez Gene: SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP oxidoreductase)"
1407:
1403:
1330:
409:
188:
151:
1878:
175:
3142:
3055:
2805:
2740:
2576:
2378:
Tobin JE, Cui J, Wilk JB, Latourelle J, Laramie J, McKee A, et al. (2007).
2362:
1873:. Advances in Experimental Medicine and Biology. Vol. 338. pp. 195–8.
1519:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1501:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1322:
1211:
2833:
492:
3270:
3196:
3088:
2875:
2239:
2041:
1975:
1592:
308:
205:
155:
1670:
3178:
2985:
2934:
2916:
2898:
2779:
2753:
2323:
1273:
718:
552:
430:
375:
362:
274:
261:
163:
2413:
2370:
2341:
2298:
2247:
2217:
2182:
2163:
2129:
2100:
2049:
2012:
1917:
1678:
1610:
2020:
1983:
1954:
1925:
1896:
1861:
1832:
1803:
1768:
1747:
Matsubara M, Katoh S, Akino M, Kaufman S (1966). "Sepiapterin
Reductase".
1739:
1553:
1018:
1013:
3312:
3014:
1431:
1411:
1391:
1140:
1002:
863:
844:
2521:: Crystal Structure of Human Sepiapterin Reductase in complex with NADP+
2970:
2946:
2879:
2464:
2454:
2443:
2433:
2280:
1427:
1159:
830:
785:
96:
92:
88:
84:
80:
76:
3168:
3163:
2792:
2562:
1419:
1357:
1314:
1239:
1135:
1123:
1111:
1034:
986:
740:
2082:
1353:
3307:
3302:
3297:
3265:
2766:
1776:
Takikawa S, Curtius HC, Redweik U, Leimbacher W, Ghisla S (1987).
1436:
International
Working Group on Neurotransmitter Related Disorders
703:
699:
3275:
3158:
3153:
1147:
1041:
143:
2848:
2535:
2474:
1410:. Patients with sepiapterin reductase deficiency also manifest
1078:
583:
2470:
2192:"Functional tetrahydrobiopterin synthesis in human platelets"
2449:
Overview of all the structural information available in the
2428:
Overview of all the structural information available in the
2065:
Bonafé L, Thöny B, Penzien JM, Czarnecki B, Blau N (2001).
2531:
1700:
1289:
399:
2822:
1288:
1057:. SPR plays an important role in the biosynthesis of
564:
3288:
3229:
3222:
3195:
3177:
3141:
3087:
3064:
3036:
3013:
3006:
2984:
2933:
2915:
2897:
2890:
2718:
2682:
2651:
2620:
2569:
1250:
1238:
1226:
1221:
1201:
1182:
1170:
1158:
1146:
1134:
1122:
1110:
1105:
1093:
1088:
1071:
949:
928:
902:
881:
1475:
1473:
1471:
1454:
1452:
1450:
1294:
346:
245:
1871:Chemistry and Biology of Pteridines and Folates
1480:GRCm38: Ensembl release 89: ENSMUSG00000033735
2860:
2547:
2486:
8:
1344:, to be specific, those acting on the CH-OH
684:regulation of nitric-oxide synthase activity
1459:GRCh38: Ensembl release 89: ENSG00000116096
3235:
3226:
3098:
3010:
2894:
2867:
2853:
2845:
2554:
2540:
2532:
2493:
2479:
2471:
1218:
714:
599:
387:
286:
183:
65:
2403:
2331:
2288:
2207:
2172:
2162:
2090:
1793:
1600:
1287:
1622:
1620:
1370:7,8-dihydrobiopterin:NADP oxidoreductase
689:tetrahydrobiopterin biosynthetic process
2829:
2508:
1446:
1282:L-erythro-7,8-dihydrobiopterin + NADP+
16:Mammalian protein found in Homo sapiens
1083:Sepiapterin reductase homodimer, Human
1068:
20:
2463:(Mouse Sepiapterin reductase) at the
2442:(Human Sepiapterin reductase) at the
351:
312:
307:
250:
209:
204:
7:
1386:Mutations of the SPR gene may cause
3248:6-pyruvoyltetrahydropterin synthase
3129:Methylenetetrahydrofolate reductase
1295:{\displaystyle \rightleftharpoons }
622:aldo-keto reductase (NADP) activity
2209:10.1161/01.CIR.0000134281.82972.57
1795:10.1111/j.1432-1033.1986.tb10446.x
946:
925:
899:
878:
854:
835:
809:
790:
764:
745:
569:
539:choroid plexus of fourth ventricle
487:
425:
404:
14:
2925:Alpha-tocopherol transfer protein
1037:that in humans is encoded by the
679:nitric oxide biosynthetic process
2947:Sterol 27-hydroxylase or CYP27A1
2832:
2511:
1388:sepiapterin reductase deficiency
1077:
573:
335:
328:
322:
299:
234:
227:
221:
196:
29:
3116:Serine hydroxymethyltransferase
2961:1-alpha-hydroxylase or CYP27B1
2396:10.1016/j.brainres.2007.01.001
1372:. This enzyme participates in
1311:L-erythro-7,8-dihydrobiopterin
617:sepiapterin reductase activity
584:More reference expression data
553:More reference expression data
1:
2122:10.1016/S0167-4838(01)00300-4
2001:Biochem. Biophys. Res. Commun
1947:10.1016/S0378-1119(97)00411-3
1732:10.1016/S0003-9861(71)80057-7
320:
219:
2143:Proc. Natl. Acad. Sci. U.S.A
1879:10.1007/978-1-4615-2960-6_39
1854:10.1016/0378-1119(94)90802-8
1825:10.1016/0888-7543(95)80101-Q
1761:10.1016/0926-6593(66)90062-2
1546:10.1016/0006-291X(91)91352-D
3338:Genes on human chromosome 2
3051:Indoleamine 2,3-dioxygenase
2994:Vitamin K epoxide reductase
2363:10.1016/j.ymgme.2006.10.013
1398:, temperature instability,
1336:This enzyme belongs to the
3369:
3353:Enzymes of known structure
1534:Biochem Biophys Res Commun
441:mucosa of transverse colon
3261:
3238:
3124:
3101:
2975:24-hydroxylase or CYP24A1
2710:Michaelis–Menten kinetics
2506:
2240:10.1007/s10048-004-0182-3
1593:10.1016/j.cbi.2008.10.040
1515:"Mouse PubMed Reference:"
1497:"Human PubMed Reference:"
1302:sepiapterin + NADPH + H+
1217:
1076:
1017:
1012:
1008:
1001:
985:
966:
953:
932:
921:
906:
885:
874:
861:
857:
842:
838:
829:
816:
812:
797:
793:
784:
771:
767:
752:
748:
739:
724:
717:
713:
697:
602:
598:
581:
572:
563:
550:
499:
490:
437:
428:
398:
390:
386:
369:
356:
319:
298:
289:
285:
268:
255:
218:
195:
186:
182:
137:
134:
124:
117:
112:
73:
68:
51:
46:
41:
37:
28:
23:
3106:Dihydropteroate synthase
3028:Thiamine diphosphokinase
2602:Diffusion-limited enzyme
1671:10.1177/0883073807302619
1414:with diurnal variation,
1368:of this enzyme class is
3348:NADPH-dependent enzymes
3187:L-gulonolactone oxidase
3111:Dihydrofolate reductase
2971:1,25-Dihydroxyvitamin D
2907:Retinol binding protein
2324:10.1136/jmg.2005.039149
2042:10.1023/A:1005584627797
1976:10.1023/A:1005327313348
1268:Sepiapterin reductase (
979:Chr 6: 85.11 – 85.11 Mb
972:Chr 2: 72.89 – 72.89 Mb
632:oxidoreductase activity
3007:Water soluble vitamins
2164:10.1073/pnas.242603899
2110:Biochim. Biophys. Acta
2030:J. Inherit. Metab. Dis
2013:10.1006/bbrc.1998.9503
1964:J. Inherit. Metab. Dis
1918:10.1006/excr.1993.1027
1749:Biochim. Biophys. Acta
1720:Arch. Biochem. Biophys
1296:
535:mucous cell of stomach
3253:Sepiapterin reductase
2695:Eadie–Hofstee diagram
2628:Allosteric regulation
1382:Clinical significance
1297:
1072:sepiapterin reductase
1031:Sepiapterin reductase
653:extracellular exosome
3243:GTP cyclohydrolase I
3223:Nonvitamin cofactors
2891:Fat soluble vitamins
2705:Lineweaver–Burk plot
1317:, whereas its three
1286:
1055:aldo-keto reductases
453:right adrenal cortex
353:6 C3|6 37.15 cM
314:Chromosome 6 (mouse)
212:Chromosome 2 (human)
69:List of PDB id codes
42:Available structures
3231:Tetrahydrobiopterin
3079:Pantothenate kinase
2957:25-Hydroxyvitamin D
2155:2002PNAS...9916899M
2149:(26): 16899–16903.
1585:2009CBI...178...94P
1374:folate biosynthesis
1309:of this enzyme are
1059:tetrahydrobiopterin
469:left adrenal cortex
449:right adrenal gland
445:right lobe of liver
2664:Enzyme superfamily
2597:Enzyme promiscuity
2281:10.1101/gr.2596504
2275:(10B): 2121–2127.
1701:"Patient registry"
1573:Chem Biol Interact
1292:
819:ENSMUSG00000033735
672:Biological process
641:Cellular component
610:Molecular function
523:left lobe of liver
465:left adrenal gland
3325:
3324:
3321:
3320:
3284:
3283:
3218:
3217:
3210:Riboflavin kinase
3137:
3136:
3002:
3001:
2882:, coenzymes, and
2820:
2819:
2529:
2528:
2351:Mol. Genet. Metab
2071:Am. J. Hum. Genet
1888:978-1-4613-6287-6
1416:oculogyric crises
1278:chemical reaction
1266:
1265:
1262:
1261:
1165:metabolic pathway
1028:
1027:
1024:
1023:
997:
996:
962:
961:
943:
942:
917:
916:
896:
895:
870:
869:
851:
850:
825:
824:
806:
805:
780:
779:
761:
760:
709:
708:
594:
593:
590:
589:
559:
558:
546:
545:
484:
483:
382:
381:
281:
280:
108:
107:
104:
103:
52:Ortholog search:
3360:
3236:
3227:
3099:
3066:Pantothenic acid
3011:
2895:
2869:
2862:
2855:
2846:
2837:
2836:
2828:
2700:Hanes–Woolf plot
2643:Enzyme activator
2638:Enzyme inhibitor
2612:Enzyme catalysis
2556:
2549:
2542:
2533:
2515:
2495:
2488:
2481:
2472:
2417:
2407:
2374:
2345:
2335:
2302:
2292:
2259:
2221:
2211:
2186:
2176:
2166:
2133:
2104:
2094:
2061:
2024:
1995:
1958:
1941:(1–2): 149–156.
1929:
1900:
1865:
1848:(1–2): 171–174.
1836:
1807:
1797:
1772:
1743:
1705:
1704:
1697:
1691:
1690:
1652:
1646:
1645:
1638:
1632:
1631:
1624:
1615:
1614:
1604:
1564:
1558:
1557:
1529:
1523:
1522:
1511:
1505:
1504:
1493:
1487:
1477:
1466:
1456:
1301:
1299:
1298:
1293:
1219:
1081:
1069:
1010:
1009:
981:
974:
957:
947:
938:
926:
922:RefSeq (protein)
912:
900:
891:
879:
855:
836:
810:
791:
765:
746:
715:
600:
586:
577:
570:
555:
495:
493:Top expressed in
488:
461:body of pancreas
433:
431:Top expressed in
426:
405:
388:
378:
365:
354:
339:
332:
326:
315:
303:
287:
277:
264:
253:
238:
231:
225:
214:
200:
184:
178:
129:
122:
99:
66:
60:
39:
38:
33:
21:
3368:
3367:
3363:
3362:
3361:
3359:
3358:
3357:
3328:
3327:
3326:
3317:
3280:
3257:
3214:
3202:
3191:
3173:
3146:
3133:
3120:
3094:
3083:
3071:
3060:
3043:
3032:
3020:
2998:
2980:
2974:
2960:
2929:
2911:
2886:
2873:
2843:
2831:
2823:
2821:
2816:
2728:Oxidoreductases
2714:
2690:Enzyme kinetics
2678:
2674:List of enzymes
2647:
2616:
2587:Catalytic triad
2565:
2560:
2530:
2525:
2522:
2516:
2502:
2499:
2425:
2420:
2377:
2348:
2305:
2262:
2224:
2189:
2136:
2107:
2064:
2027:
1998:
1961:
1932:
1903:
1889:
1868:
1839:
1810:
1782:Eur. J. Biochem
1775:
1746:
1717:
1713:
1711:Further reading
1708:
1699:
1698:
1694:
1654:
1653:
1649:
1640:
1639:
1635:
1626:
1625:
1618:
1566:
1565:
1561:
1531:
1530:
1526:
1513:
1512:
1508:
1495:
1494:
1490:
1478:
1469:
1457:
1448:
1444:
1424:hypersomnolence
1400:hypersalivation
1396:choreoathetosis
1384:
1366:systematic name
1342:oxidoreductases
1329:, and a single
1284:
1283:
1084:
1067:
1050:
1019:View/Edit Mouse
1014:View/Edit Human
977:
970:
967:Location (UCSC)
955:
934:
908:
887:
800:ENSG00000116096
693:
667:
636:
582:
551:
542:
537:
533:
529:
527:proximal tubule
525:
521:
519:muscle of thigh
517:
513:
509:
505:
491:
480:
475:
473:body of stomach
471:
467:
463:
459:
455:
451:
447:
443:
429:
373:
360:
352:
342:
341:
340:
333:
313:
290:Gene location (
272:
259:
251:
241:
240:
239:
232:
210:
187:Gene location (
176:SPR - orthologs
138:
125:
118:
75:
53:
17:
12:
11:
5:
3366:
3364:
3356:
3355:
3350:
3345:
3340:
3330:
3329:
3323:
3322:
3319:
3318:
3316:
3315:
3310:
3305:
3300:
3294:
3292:
3286:
3285:
3282:
3281:
3279:
3278:
3273:
3268:
3262:
3259:
3258:
3256:
3255:
3250:
3245:
3239:
3233:
3224:
3220:
3219:
3216:
3215:
3213:
3212:
3206:
3204:
3200:
3193:
3192:
3190:
3189:
3183:
3181:
3175:
3174:
3172:
3171:
3166:
3161:
3156:
3150:
3148:
3144:
3139:
3138:
3135:
3134:
3132:
3131:
3125:
3122:
3121:
3119:
3118:
3113:
3108:
3102:
3096:
3092:
3085:
3084:
3082:
3081:
3075:
3073:
3069:
3062:
3061:
3059:
3058:
3053:
3047:
3045:
3041:
3034:
3033:
3031:
3030:
3024:
3022:
3018:
3008:
3004:
3003:
3000:
2999:
2997:
2996:
2990:
2988:
2982:
2981:
2979:
2978:
2972:
2964:
2958:
2950:
2939:
2937:
2931:
2930:
2928:
2927:
2921:
2919:
2913:
2912:
2910:
2909:
2903:
2901:
2892:
2888:
2887:
2874:
2872:
2871:
2864:
2857:
2849:
2842:
2841:
2818:
2817:
2815:
2814:
2801:
2788:
2775:
2762:
2749:
2736:
2722:
2720:
2716:
2715:
2713:
2712:
2707:
2702:
2697:
2692:
2686:
2684:
2680:
2679:
2677:
2676:
2671:
2666:
2661:
2655:
2653:
2652:Classification
2649:
2648:
2646:
2645:
2640:
2635:
2630:
2624:
2622:
2618:
2617:
2615:
2614:
2609:
2604:
2599:
2594:
2589:
2584:
2579:
2573:
2571:
2567:
2566:
2561:
2559:
2558:
2551:
2544:
2536:
2527:
2526:
2524:
2523:
2517:
2510:
2507:
2504:
2503:
2500:
2498:
2497:
2490:
2483:
2475:
2469:
2468:
2447:
2424:
2423:External links
2421:
2419:
2418:
2375:
2357:(3): 277–283.
2346:
2318:(7): 557–562.
2303:
2260:
2234:(3): 187–190.
2222:
2202:(2): 186–192.
2187:
2134:
2105:
2083:10.1086/321970
2077:(2): 269–277.
2062:
2036:(3): 216–220.
2025:
2007:(2): 597–602.
1996:
1970:(4): 433–434.
1959:
1930:
1912:(2): 217–222.
1901:
1887:
1866:
1837:
1819:(1): 168–170.
1808:
1788:(2): 295–302.
1773:
1755:(2): 202–212.
1744:
1726:(1): 202–214.
1714:
1712:
1709:
1707:
1706:
1692:
1665:(5): 606–616.
1658:J Child Neurol
1647:
1633:
1616:
1579:(1–3): 94–98.
1559:
1540:(1): 183–189.
1524:
1506:
1488:
1467:
1445:
1443:
1440:
1383:
1380:
1305:Thus, the two
1291:
1264:
1263:
1260:
1259:
1254:
1248:
1247:
1242:
1236:
1235:
1230:
1224:
1223:
1215:
1214:
1205:
1199:
1198:
1187:
1180:
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1174:
1168:
1167:
1162:
1156:
1155:
1150:
1144:
1143:
1138:
1132:
1131:
1126:
1120:
1119:
1114:
1108:
1107:
1103:
1102:
1097:
1091:
1090:
1086:
1085:
1082:
1074:
1073:
1066:
1063:
1049:
1046:
1026:
1025:
1022:
1021:
1016:
1006:
1005:
999:
998:
995:
994:
992:
990:
983:
982:
975:
968:
964:
963:
960:
959:
951:
950:
944:
941:
940:
930:
929:
923:
919:
918:
915:
914:
904:
903:
897:
894:
893:
883:
882:
876:
872:
871:
868:
867:
859:
858:
852:
849:
848:
840:
839:
833:
827:
826:
823:
822:
814:
813:
807:
804:
803:
795:
794:
788:
782:
781:
778:
777:
769:
768:
762:
759:
758:
750:
749:
743:
737:
736:
731:
726:
722:
721:
711:
710:
707:
706:
695:
694:
692:
691:
686:
681:
675:
673:
669:
668:
666:
665:
660:
655:
650:
644:
642:
638:
637:
635:
634:
629:
624:
619:
613:
611:
607:
606:
596:
595:
592:
591:
588:
587:
579:
578:
567:
561:
560:
557:
556:
548:
547:
544:
543:
541:
540:
536:
532:
528:
524:
520:
516:
512:
508:
504:
500:
497:
496:
485:
482:
481:
479:
478:
474:
470:
466:
462:
458:
454:
450:
446:
442:
438:
435:
434:
422:
421:
413:
402:
396:
395:
392:RNA expression
384:
383:
380:
379:
371:
367:
366:
358:
355:
350:
344:
343:
334:
327:
321:
317:
316:
311:
305:
304:
296:
295:
283:
282:
279:
278:
270:
266:
265:
257:
254:
249:
243:
242:
233:
226:
220:
216:
215:
208:
202:
201:
193:
192:
180:
179:
136:
132:
131:
123:
115:
114:
110:
109:
106:
105:
102:
101:
71:
70:
62:
61:
50:
44:
43:
35:
34:
26:
25:
15:
13:
10:
9:
6:
4:
3:
2:
3365:
3354:
3351:
3349:
3346:
3344:
3341:
3339:
3336:
3335:
3333:
3314:
3311:
3309:
3306:
3304:
3301:
3299:
3296:
3295:
3293:
3291:
3290:Molybdopterin
3287:
3277:
3274:
3272:
3269:
3267:
3264:
3263:
3260:
3254:
3251:
3249:
3246:
3244:
3241:
3240:
3237:
3234:
3232:
3228:
3225:
3221:
3211:
3208:
3207:
3205:
3198:
3194:
3188:
3185:
3184:
3182:
3180:
3176:
3170:
3167:
3165:
3162:
3160:
3157:
3155:
3152:
3151:
3149:
3147:
3140:
3130:
3127:
3126:
3123:
3117:
3114:
3112:
3109:
3107:
3104:
3103:
3100:
3097:
3090:
3086:
3080:
3077:
3076:
3074:
3067:
3063:
3057:
3054:
3052:
3049:
3048:
3046:
3039:
3035:
3029:
3026:
3025:
3023:
3016:
3012:
3009:
3005:
2995:
2992:
2991:
2989:
2987:
2983:
2976:
2968:
2965:
2962:
2954:
2951:
2948:
2944:
2941:
2940:
2938:
2936:
2932:
2926:
2923:
2922:
2920:
2918:
2914:
2908:
2905:
2904:
2902:
2900:
2896:
2893:
2889:
2885:
2881:
2877:
2870:
2865:
2863:
2858:
2856:
2851:
2850:
2847:
2840:
2835:
2830:
2826:
2812:
2808:
2807:
2802:
2799:
2795:
2794:
2789:
2786:
2782:
2781:
2776:
2773:
2769:
2768:
2763:
2760:
2756:
2755:
2750:
2747:
2743:
2742:
2737:
2734:
2730:
2729:
2724:
2723:
2721:
2717:
2711:
2708:
2706:
2703:
2701:
2698:
2696:
2693:
2691:
2688:
2687:
2685:
2681:
2675:
2672:
2670:
2669:Enzyme family
2667:
2665:
2662:
2660:
2657:
2656:
2654:
2650:
2644:
2641:
2639:
2636:
2634:
2633:Cooperativity
2631:
2629:
2626:
2625:
2623:
2619:
2613:
2610:
2608:
2605:
2603:
2600:
2598:
2595:
2593:
2592:Oxyanion hole
2590:
2588:
2585:
2583:
2580:
2578:
2575:
2574:
2572:
2568:
2564:
2557:
2552:
2550:
2545:
2543:
2538:
2537:
2534:
2520:
2514:
2509:
2505:
2496:
2491:
2489:
2484:
2482:
2477:
2476:
2473:
2466:
2462:
2461:
2456:
2452:
2448:
2445:
2441:
2440:
2435:
2431:
2427:
2426:
2422:
2415:
2411:
2406:
2401:
2397:
2393:
2389:
2385:
2381:
2376:
2372:
2368:
2364:
2360:
2356:
2352:
2347:
2343:
2339:
2334:
2329:
2325:
2321:
2317:
2313:
2312:J. Med. Genet
2309:
2304:
2300:
2296:
2291:
2286:
2282:
2278:
2274:
2270:
2266:
2261:
2257:
2253:
2249:
2245:
2241:
2237:
2233:
2229:
2228:Neurogenetics
2223:
2219:
2215:
2210:
2205:
2201:
2197:
2193:
2188:
2184:
2180:
2175:
2170:
2165:
2160:
2156:
2152:
2148:
2144:
2140:
2135:
2131:
2127:
2123:
2119:
2115:
2111:
2106:
2102:
2098:
2093:
2088:
2084:
2080:
2076:
2072:
2068:
2063:
2059:
2055:
2051:
2047:
2043:
2039:
2035:
2031:
2026:
2022:
2018:
2014:
2010:
2006:
2002:
1997:
1993:
1989:
1985:
1981:
1977:
1973:
1969:
1965:
1960:
1956:
1952:
1948:
1944:
1940:
1936:
1931:
1927:
1923:
1919:
1915:
1911:
1907:
1906:Exp. Cell Res
1902:
1898:
1894:
1890:
1884:
1880:
1876:
1872:
1867:
1863:
1859:
1855:
1851:
1847:
1843:
1838:
1834:
1830:
1826:
1822:
1818:
1814:
1809:
1805:
1801:
1796:
1791:
1787:
1783:
1779:
1774:
1770:
1766:
1762:
1758:
1754:
1750:
1745:
1741:
1737:
1733:
1729:
1725:
1721:
1716:
1715:
1710:
1702:
1696:
1693:
1688:
1684:
1680:
1676:
1672:
1668:
1664:
1660:
1659:
1651:
1648:
1643:
1637:
1634:
1629:
1623:
1621:
1617:
1612:
1608:
1603:
1598:
1594:
1590:
1586:
1582:
1578:
1574:
1570:
1563:
1560:
1555:
1551:
1547:
1543:
1539:
1535:
1528:
1525:
1520:
1516:
1510:
1507:
1502:
1498:
1492:
1489:
1485:
1481:
1476:
1474:
1472:
1468:
1464:
1460:
1455:
1453:
1451:
1447:
1441:
1439:
1437:
1433:
1429:
1426:, oculomotor
1425:
1421:
1417:
1413:
1409:
1405:
1401:
1397:
1393:
1389:
1381:
1379:
1377:
1375:
1371:
1367:
1363:
1359:
1355:
1351:
1347:
1343:
1339:
1334:
1332:
1328:
1324:
1320:
1316:
1312:
1308:
1303:
1280:
1279:
1275:
1271:
1258:
1255:
1253:
1249:
1246:
1243:
1241:
1237:
1234:
1231:
1229:
1225:
1220:
1216:
1213:
1209:
1206:
1204:
1203:Gene Ontology
1200:
1197:
1194:
1191:
1188:
1185:
1181:
1178:
1175:
1173:
1169:
1166:
1163:
1161:
1157:
1154:
1151:
1149:
1145:
1142:
1141:NiceZyme view
1139:
1137:
1133:
1130:
1127:
1125:
1121:
1118:
1115:
1113:
1109:
1104:
1101:
1098:
1096:
1092:
1087:
1080:
1075:
1070:
1064:
1062:
1060:
1056:
1047:
1045:
1043:
1040:
1036:
1032:
1020:
1015:
1011:
1007:
1004:
1000:
993:
991:
988:
984:
980:
976:
973:
969:
965:
958:
952:
948:
945:
939:
937:
931:
927:
924:
920:
913:
911:
905:
901:
898:
892:
890:
884:
880:
877:
875:RefSeq (mRNA)
873:
866:
865:
860:
856:
853:
847:
846:
841:
837:
834:
832:
828:
821:
820:
815:
811:
808:
802:
801:
796:
792:
789:
787:
783:
776:
775:
770:
766:
763:
757:
756:
751:
747:
744:
742:
738:
735:
732:
730:
727:
723:
720:
716:
712:
705:
701:
696:
690:
687:
685:
682:
680:
677:
676:
674:
671:
670:
664:
661:
659:
656:
654:
651:
649:
646:
645:
643:
640:
639:
633:
630:
628:
625:
623:
620:
618:
615:
614:
612:
609:
608:
605:
604:Gene ontology
601:
597:
585:
580:
576:
571:
568:
566:
562:
554:
549:
538:
534:
530:
526:
522:
518:
514:
510:
506:
502:
501:
498:
494:
489:
486:
476:
472:
468:
464:
460:
457:apex of heart
456:
452:
448:
444:
440:
439:
436:
432:
427:
424:
423:
420:
418:
414:
412:
411:
407:
406:
403:
401:
397:
393:
389:
385:
377:
372:
368:
364:
359:
349:
345:
338:
331:
325:
318:
310:
306:
302:
297:
293:
288:
284:
276:
271:
267:
263:
258:
248:
244:
237:
230:
224:
217:
213:
207:
203:
199:
194:
190:
185:
181:
177:
173:
169:
165:
161:
157:
153:
149:
145:
141:
133:
128:
121:
116:
111:
100:
98:
94:
90:
86:
82:
78:
72:
67:
64:
63:
59:
56:
49:
45:
40:
36:
32:
27:
22:
19:
3252:
2966:
2952:
2942:
2806:Translocases
2803:
2790:
2777:
2764:
2751:
2741:Transferases
2738:
2725:
2582:Binding site
2518:
2458:
2437:
2387:
2383:
2354:
2350:
2315:
2311:
2272:
2268:
2231:
2227:
2199:
2195:
2146:
2142:
2116:(1): 191–8.
2113:
2109:
2074:
2070:
2033:
2029:
2004:
2000:
1967:
1963:
1938:
1934:
1909:
1905:
1870:
1845:
1841:
1816:
1812:
1785:
1781:
1752:
1748:
1723:
1719:
1695:
1662:
1656:
1650:
1636:
1576:
1572:
1562:
1537:
1533:
1527:
1518:
1509:
1500:
1491:
1408:irritability
1404:microcephaly
1385:
1378:
1369:
1335:
1331:hydrogen ion
1304:
1281:
1269:
1267:
1129:BRENDA entry
1051:
1038:
1030:
1029:
954:
933:
907:
886:
862:
843:
817:
798:
772:
753:
733:
728:
627:NADP binding
511:human kidney
503:right kidney
477:human kidney
415:
408:
135:External IDs
74:
18:
3056:Formamidase
2967:degradation
2577:Active site
2501:PDB gallery
2196:Circulation
1323:sepiapterin
1117:IntEnz view
1089:Identifiers
648:nucleoplasm
507:ankle joint
374:85,114,748
361:85,107,158
273:72,892,158
260:72,887,382
113:Identifiers
3332:Categories
3197:Riboflavin
3089:Folic acid
2876:Metabolism
2780:Isomerases
2754:Hydrolases
2621:Regulation
2269:Genome Res
1486:, May 2017
1465:, May 2017
1442:References
1307:substrates
1186:structures
1153:KEGG entry
419:(ortholog)
156:HomoloGene
3179:Vitamin C
3143:Vitamin B
2986:Vitamin K
2935:Vitamin D
2917:Vitamin E
2899:Vitamin A
2884:cofactors
2659:EC number
2390:: 42–47.
2384:Brain Res
1290:⇌
1274:catalyzes
1106:Databases
1100:1.1.1.153
936:NP_003115
910:NM_011467
889:NM_003124
719:Orthologs
658:cytoplasm
164:GeneCards
3343:EC 1.1.1
3313:Gephyrin
3015:Thiamine
2880:vitamins
2683:Kinetics
2607:Cofactor
2570:Activity
2414:17270157
2371:17188538
2342:16443856
2299:15489334
2248:15241655
2218:15197144
2183:12477932
2130:11825621
2101:11443547
2058:30670124
2050:10384371
1992:20969872
1813:Genomics
1687:10689202
1679:17690069
1611:19027726
1482:–
1461:–
1438:(iNTD).
1432:weakness
1412:dystonia
1392:seizures
1362:acceptor
1319:products
1257:proteins
1245:articles
1233:articles
1190:RCSB PDB
1065:Reaction
1048:Function
1003:Wikidata
698:Sources:
515:yolk sac
2839:Biology
2793:Ligases
2563:Enzymes
2465:PDBe-KB
2455:UniProt
2444:PDBe-KB
2434:UniProt
2405:1868471
2333:2593029
2256:4833737
2151:Bibcode
2092:1235302
2021:9792819
1984:9700606
1955:9373149
1926:8440319
1897:8304109
1862:8125298
1833:7782081
1804:3536512
1769:5969298
1740:4401291
1602:2896744
1581:Bibcode
1554:1883349
1484:Ensembl
1463:Ensembl
1428:apraxia
1212:QuickGO
1177:profile
1160:MetaCyc
831:UniProt
786:Ensembl
725:Species
704:QuickGO
663:cytosol
394:pattern
120:Aliases
3169:MMADHC
3164:MMACHC
3038:Niacin
2825:Portal
2767:Lyases
2460:Q64105
2439:P35270
2412:
2402:
2369:
2340:
2330:
2297:
2290:528928
2287:
2254:
2246:
2216:
2181:
2174:139241
2171:
2128:
2099:
2089:
2056:
2048:
2019:
1990:
1982:
1953:
1924:
1895:
1885:
1860:
1831:
1802:
1767:
1738:
1685:
1677:
1609:
1599:
1552:
1430:, and
1420:tremor
1406:, and
1364:. The
1338:family
1240:PubMed
1222:Search
1208:AmiGO
1196:PDBsum
1136:ExPASy
1124:BRENDA
1112:IntEnz
1095:EC no.
1035:enzyme
1033:is an
989:search
987:PubMed
864:Q64105
845:P35270
741:Entrez
565:BioGPS
252:2p13.2
152:103078
144:182125
3308:MOCS3
3303:MOCS2
3298:MOCS1
3266:PCBD1
2953:renal
2943:liver
2719:Types
2252:S2CID
2054:S2CID
1988:S2CID
1683:S2CID
1352:with
1350:donor
1346:group
1333:(H).
1327:NADPH
1172:PRIAM
774:20751
734:Mouse
729:Human
700:Amigo
417:Mouse
410:Human
357:Start
292:Mouse
256:Start
189:Human
160:37735
3276:QDPR
3159:MMAB
3154:MMAA
2811:list
2804:EC7
2798:list
2791:EC6
2785:list
2778:EC5
2772:list
2765:EC4
2759:list
2752:EC3
2746:list
2739:EC2
2733:list
2726:EC1
2519:1z6z
2453:for
2432:for
2410:PMID
2388:1139
2367:PMID
2338:PMID
2295:PMID
2244:PMID
2214:PMID
2179:PMID
2126:PMID
2114:1594
2097:PMID
2046:PMID
2017:PMID
1980:PMID
1951:PMID
1935:Gene
1922:PMID
1893:PMID
1883:ISBN
1858:PMID
1842:Gene
1829:PMID
1800:PMID
1765:PMID
1736:PMID
1675:PMID
1607:PMID
1550:PMID
1358:NADP
1321:are
1315:NADP
1313:and
1276:the
1252:NCBI
1193:PDBe
1148:KEGG
1042:gene
755:6697
400:Bgee
348:Band
309:Chr.
247:Band
206:Chr.
140:OMIM
97:4Z3K
93:4XWY
89:4J7X
85:4J7U
81:4HWK
77:1Z6Z
58:RCSB
55:PDBe
3271:PTS
2878:of
2451:PDB
2430:PDB
2400:PMC
2392:doi
2359:doi
2328:PMC
2320:doi
2285:PMC
2277:doi
2236:doi
2204:doi
2200:110
2169:PMC
2159:doi
2118:doi
2087:PMC
2079:doi
2038:doi
2009:doi
2005:251
1972:doi
1943:doi
1939:200
1914:doi
1910:204
1875:doi
1850:doi
1846:138
1821:doi
1790:doi
1786:161
1757:doi
1753:122
1728:doi
1724:146
1667:doi
1597:PMC
1589:doi
1577:178
1542:doi
1538:179
1360:as
1356:or
1354:NAD
1348:of
1340:of
1270:SPR
1228:PMC
1184:PDB
1039:SPR
956:n/a
531:lip
370:End
269:End
172:OMA
168:SPR
148:MGI
127:SPR
48:PDB
24:SPR
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