1143:. More than 30 disorder-causing mutations in this gene have been identified, including aberrant splicing, amino acid substitutions, insertions, or premature terminations. These mutations completely, or almost completely, inactivate quinoid dihydropteridine reductase, which prevents the normal recycling of tetrahydrobiopterin. In the absence of usable tetrahydrobiopterin, the body cannot process phenylalanine correctly. As a result, phenylalanine from the diet builds up in the bloodstream and other tissues and can lead to brain damage. Neurotransmitters in the brain are also affected, resulting in delayed development, seizures, movement disorders, and other symptoms.
302:
2189:
279:
176:
201:
2174:
553:
2159:
308:
207:
29:
1105:. When tetrahydrobiopterin interacts with phenylalanine hydroxylase, tetrahydrobiopterin is altered and must be recycled to a usable form. The regeneration of this substance is critical for the proper processing of several other amino acids in the body. Tetrahydrobiopterin also helps produce certain chemicals in the brain called
55:
2188:
1298:
Romstad A, Kalkanoglu HS, Coskun T, Demirkol M, Tokatli A, Dursun A, Baykal T, Ozalp I, Guldberg P, Guttler F (2000). "Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE)".
2248:
1934:
Su Y, Varughese KI, Xuong NH, et al. (1994). "The crystallographic structure of a human dihydropteridine reductase NADH binary complex expressed in
Escherichia coli by a cDNA constructed from its rat homologue".
2241:
2036:
Lin CM, Tan Y, Lee YM, et al. (1998). "Expression of human phenylalanine hydroxylase activity in T lymphocytes of classical phenylketonuria children by retroviral-mediated gene transfer".
2234:
1893:"Phosphorylation by Ca2+/calmodulin-dependent protein kinase II and protein kinase C of sepiapterin reductase, the terminal enzyme in the biosynthetic pathway of tetrahydrobiopterin"
2173:
1712:
Nakanishi N, Hasegawa H, Yamada S, Akino M (1986). "Purification and physicochemical properties of NADPH-specific dihydropteridine reductase from bovine and human livers".
315:
214:
2197:: THE CRYSTALLOGRAPHIC STRUCTURE OF A HUMAN DIHYDROPTERIDINE REDUCTASE NADH BINARY COMPLEX EXPRESSED IN ESCHERICHIA COLI BY A CDNA CONSTRUCTED FROM ITS RAT HOMOLOGUE
2007:
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library".
1124:
1654:
Altmann P, Al-Salihi F, Butter K, et al. (1987). "Serum aluminum levels and erythrocyte dihydropteridine reductase activity in patients on hemodialysis".
796:
777:
137:
2075:"Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations"
2338:
1560:"Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency"
2158:
1683:
Brown RM, Dahl HH (1987). "Localization of the human dihydropteridine reductase gene to band p15.3 of chromosome 4 by in situ hybridization".
1227:
2138:
1136:
1209:
2719:
1862:
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides".
1821:"Molecular and immunological comparison of human dihydropteridine reductase in liver, cultured fibroblasts and continuous lymphoid cells"
52:
2629:
2510:
301:
1078:
1004:
2306:
2091:
2074:
1011:
278:
2497:
1196:
1175:
1459:
Kaufman S, Holtzman NA, Milstien S, et al. (1975). "Phenylketonuria due to a deficiency of dihydropteridine reductase".
1140:
1192:
200:
175:
1171:
1786:"Inhibition of dihydropteridine reductase from human liver and rat striatal synaptosomes by apomorphine and its analogs"
117:
2432:
2375:
314:
213:
2131:
1086:
307:
206:
2487:
2409:
841:
125:
2568:
2492:
2288:
2265:
822:
1966:"Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency"
2634:
2624:
2124:
1614:
1113:
1102:
189:
104:
2612:
2460:
2226:
1082:
966:
915:
2104:
2061:
1922:
1447:
1324:
1276:
149:
987:
962:
936:
911:
1490:"Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency"
2591:
2419:
2096:
2053:
2024:
1995:
1952:
1914:
1879:
1850:
1807:
1772:
1729:
1700:
1671:
1642:
1589:
1546:
1511:
1476:
1439:
1396:
1353:
1316:
1268:
97:
45:
2447:
2086:
2045:
2016:
1985:
1977:
1944:
1904:
1871:
1840:
1832:
1797:
1762:
1754:
1721:
1692:
1663:
1632:
1622:
1579:
1571:
1536:
1501:
1468:
1429:
1386:
1378:
1345:
1308:
1258:
1106:
394:
325:
269:
224:
2214:
1725:
1150:
to build up abnormally in certain parts of the brain, resulting in damage to nerve cells.
552:
369:
145:
1146:
In addition, a reduction in the activity of quinoid dihydropteridine reductase may cause
1618:
1990:
1965:
1845:
1820:
1767:
1742:
1506:
1489:
1391:
1366:
2020:
1802:
1785:
1637:
1602:
1584:
1559:
1336:
Shintaku H (2002). "Disorders of tetrahydrobiopterin metabolism and their treatment".
711:
706:
701:
696:
691:
686:
681:
676:
671:
655:
650:
645:
640:
635:
619:
614:
609:
604:
599:
594:
28:
2713:
2671:
2182:: CRYSTAL STRUCTURE OF A MONOCLINIC FORM OF DIHYDROPTERIDINE REDUCTASE FROM RAT LIVER
1909:
1892:
1875:
1696:
1263:
1246:
1097:(a building block of proteins) that is obtained through the diet; it is found in all
1090:
581:
2065:
1926:
1743:"New pteridine substrates for dihydropteridine reductase and horseradish peroxidase"
1451:
1328:
1280:
2108:
387:
166:
129:
153:
2524:
2437:
1667:
1472:
1382:
1232:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1214:
National Center for
Biotechnology Information, U.S. National Library of Medicine
470:
2652:
2578:
2470:
2257:
2049:
1094:
286:
183:
133:
1349:
2560:
2367:
2316:
2298:
2280:
1627:
1575:
1434:
1417:
1117:
741:
530:
408:
353:
340:
252:
239:
141:
1400:
1357:
1320:
1272:
2100:
2057:
2028:
1999:
1956:
1948:
1918:
1883:
1854:
1811:
1776:
1733:
1704:
1675:
1646:
1593:
1550:
1515:
1480:
1443:
1312:
1051:
1046:
2694:
2396:
1981:
1035:
886:
867:
1541:
1524:
1247:"Novel MITF targets identified using a two-step DNA microarray strategy"
2352:
2328:
2261:
2092:
10.1002/(SICI)1098-1004(1998)12:4<267::AID-HUMU8>3.0.CO;2-C
1525:"Probable assignment of the dihydropteridine reductase gene to 4p15.31"
1147:
1098:
853:
808:
1836:
1758:
1081:. This enzyme is part of the pathway that recycles a substance called
74:
2550:
2545:
1085:, also known as BH4. Tetrahydrobiopterin works with an enzyme called
1019:
763:
2689:
2684:
2679:
2647:
1071:
726:
722:
2540:
2535:
1074:
121:
108:, DHPR, PKU2, SDR33C1, quinoid dihydropteridine reductase, HDHPR
2230:
2120:
561:
2116:
1603:"Structure and expression of human dihydropteridine reductase"
1367:"Tetrahydrobiopterin biosynthesis, regeneration and functions"
1123:
In melanocytic cells QDPR gene expression may be regulated by
2167:: CRYSTAL STRUCTURE OF RAT LIVER DIHYDROPTERIDINE REDUCTASE
2073:
Dianzani I, de
Sanctis L, Smooker PM, et al. (1998).
1418:"Molecular basis of dihydropteridine reductase deficiency"
377:
1964:
Dianzani I, Howells DW, Ponzone A, et al. (1993).
1245:
Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008).
2221:
542:
1891:
Katoh S, Sueoka T, Yamamoto Y, Takahashi SY (1994).
1601:
Lockyer J, Cook RG, Milstien S, et al. (1987).
1558:
Dahl HH, Hutchison W, McAdam W, et al. (1987).
2670:
2611:
2604:
2577:
2559:
2523:
2469:
2446:
2418:
2395:
2388:
2366:
2315:
2297:
2279:
2272:
1488:Howells DW, Forrest SM, Dahl HH, Cotton RG (1990).
980:
955:
929:
904:
1819:Firgaira FA, Choo KH, Cotton RG, Danks DM (1982).
1188:
1186:
1184:
1167:
1165:
1163:
1112:The QDPR gene is located on the short (p) arm of
324:
223:
1523:Sumi S, Ishikawa T, Ito Y, et al. (1990).
1784:Shen RS, Smith RV, Davis PJ, Abell CW (1984).
1193:GRCm38: Ensembl release 89: ENSMUSG00000015806
1109:, which transmit signals between nerve cells.
2242:
2132:
8:
1172:GRCh38: Ensembl release 89: ENSG00000151552
2617:
2608:
2480:
2392:
2276:
2249:
2235:
2227:
2139:
2125:
2117:
1741:Armarego WL, Ohnishi A, Taguchi H (1986).
737:
577:
365:
264:
161:
63:
2090:
1989:
1908:
1844:
1801:
1766:
1636:
1626:
1583:
1540:
1505:
1433:
1390:
1262:
702:tetrahydrobiopterin biosynthetic process
2154:
1159:
600:6,7-dihydropteridine reductase activity
18:
1726:10.1093/oxfordjournals.jbchem.a135522
1137:dihydropteridine reductase deficiency
677:cellular amino acid metabolic process
329:
290:
285:
228:
187:
182:
7:
1365:Thony B, Auerbach G, Blau N (2000).
1120:17,164,291 to base pair 17,189,981.
2630:6-pyruvoyltetrahydropterin synthase
2511:Methylenetetrahydrofolate reductase
1079:quinoid dihydropteridine reductase
1068:quinoid dihydropteridine reductase
977:
952:
926:
901:
877:
858:
832:
813:
787:
768:
687:dihydrobiopterin metabolic process
547:
465:
403:
382:
14:
2307:Alpha-tocopherol transfer protein
1135:Mutations in the QDPR gene cause
682:L-phenylalanine catabolic process
595:protein homodimerization activity
2329:Sterol 27-hydroxylase or CYP27A1
2187:
2172:
2157:
1264:10.1111/j.1755-148X.2008.00505.x
551:
419:inferior ganglion of vagus nerve
313:
306:
300:
277:
212:
205:
199:
174:
27:
2498:Serine hydroxymethyltransferase
2343:1-alpha-hydroxylase or CYP27B1
1416:Smooker PM, Cotton RG (1995).
1141:tetrahydrobiopterin deficiency
1089:to process a substance called
562:More reference expression data
531:More reference expression data
1:
2021:10.1016/S0378-1119(97)00411-3
1803:10.1016/S0021-9258(17)47254-1
298:
197:
2222:Tetrahydrobiopterin Homepage
1910:10.1016/0014-5793(94)80462-1
1876:10.1016/0378-1119(94)90802-8
1697:10.1016/0888-7543(87)90106-6
1607:Proc. Natl. Acad. Sci. U.S.A
2720:Genes on human chromosome 4
2433:Indoleamine 2,3-dioxygenase
2376:Vitamin K epoxide reductase
1668:10.1056/NEJM198707093170204
1473:10.1056/NEJM197510162931601
427:superior vestibular nucleus
2736:
615:electron transfer activity
493:lateral geniculate nucleus
2643:
2620:
2506:
2483:
2357:24-hydroxylase or CYP24A1
2152:
1383:10.1042/0264-6021:3470001
1251:Pigment Cell Melanoma Res
1228:"Mouse PubMed Reference:"
1210:"Human PubMed Reference:"
1139:, one of the subtypes of
1087:phenylalanine hydroxylase
1077:that produces the enzyme
1050:
1045:
1041:
1034:
1018:
999:
984:
959:
948:
933:
908:
897:
884:
880:
865:
861:
852:
839:
835:
820:
816:
807:
794:
790:
775:
771:
762:
747:
740:
736:
720:
580:
576:
559:
550:
541:
528:
509:medial vestibular nucleus
501:medial geniculate nucleus
477:
468:
415:
406:
376:
368:
364:
347:
334:
297:
276:
267:
263:
246:
233:
196:
173:
164:
160:
115:
112:
102:
95:
90:
71:
66:
49:
44:
39:
35:
26:
21:
2488:Dihydropteroate synthase
2410:Thiamine diphosphokinase
1350:10.2174/1389200024605145
1116:at position 15.31, from
712:electron transport chain
697:response to aluminum ion
513:dorsal tegmental nucleus
439:inferior olivary nucleus
423:external globus pallidus
2569:L-gulonolactone oxidase
2493:Dihydrofolate reductase
2353:1,25-Dihydroxyvitamin D
2289:Retinol binding protein
2050:10.1023/A:1005303331218
1628:10.1073/pnas.84.10.3329
1435:10.1002/humu.1380050402
1012:Chr 5: 45.59 – 45.61 Mb
1005:Chr 4: 17.46 – 17.51 Mb
620:oxidoreductase activity
2389:Water soluble vitamins
2038:J. Inherit. Metab. Dis
1093:. Phenylalanine is an
505:ventral tegmental area
485:deep cerebellar nuclei
443:ventral tegmental area
2635:Sepiapterin reductase
1576:10.1093/nar/15.5.1921
1313:10.1007/s004390000407
1103:artificial sweeteners
656:extracellular exosome
2625:GTP cyclohydrolase I
2605:Nonvitamin cofactors
2273:Fat soluble vitamins
1982:10.1136/jmg.30.6.465
692:response to lead ion
672:response to glucagon
517:lateral hypothalamus
292:Chromosome 5 (mouse)
190:Chromosome 4 (human)
67:List of PDB id codes
40:Available structures
2613:Tetrahydrobiopterin
2461:Pantothenate kinase
2339:25-Hydroxyvitamin D
1949:10.2210/pdb1hdr/pdb
1619:1987PNAS...84.3329L
1542:10.1620/tjem.160.93
1083:tetrahydrobiopterin
451:subthalamic nucleus
331:5 B3|5 24.9 cM
1529:Tohoku J. Exp. Med
1131:Related conditions
842:ENSMUSG00000015806
665:Biological process
629:Cellular component
588:Molecular function
2707:
2706:
2703:
2702:
2666:
2665:
2600:
2599:
2592:Riboflavin kinase
2519:
2518:
2384:
2383:
2264:, coenzymes, and
2215:GeneCard for QDPR
2205:
2204:
1837:10.1042/bj1970045
1796:(14): 8994–9000.
1759:10.1042/bj2340335
1564:Nucleic Acids Res
1494:Am. J. Hum. Genet
1107:neurotransmitters
1061:
1060:
1057:
1056:
1030:
1029:
995:
994:
974:
973:
944:
943:
923:
922:
893:
892:
874:
873:
848:
847:
829:
828:
803:
802:
784:
783:
732:
731:
707:liver development
651:neuron projection
572:
571:
568:
567:
537:
536:
524:
523:
462:
461:
360:
359:
259:
258:
86:
85:
82:
81:
50:Ortholog search:
2727:
2618:
2609:
2481:
2448:Pantothenic acid
2393:
2277:
2251:
2244:
2237:
2228:
2191:
2176:
2161:
2141:
2134:
2127:
2118:
2112:
2094:
2069:
2032:
2003:
1993:
1960:
1943:(36): 26836–41.
1930:
1912:
1887:
1858:
1848:
1815:
1805:
1780:
1770:
1737:
1708:
1679:
1650:
1640:
1630:
1597:
1587:
1554:
1544:
1519:
1509:
1484:
1455:
1437:
1404:
1394:
1361:
1332:
1285:
1284:
1266:
1242:
1236:
1235:
1224:
1218:
1217:
1206:
1200:
1190:
1179:
1169:
1043:
1042:
1014:
1007:
990:
978:
969:
953:
949:RefSeq (protein)
939:
927:
918:
902:
878:
859:
833:
814:
788:
769:
738:
578:
564:
555:
548:
533:
481:substantia nigra
473:
471:Top expressed in
466:
411:
409:Top expressed in
404:
383:
366:
356:
343:
332:
317:
310:
304:
293:
281:
265:
255:
242:
231:
216:
209:
203:
192:
178:
162:
156:
154:QDPR - orthologs
107:
100:
77:
64:
58:
37:
36:
31:
19:
2735:
2734:
2730:
2729:
2728:
2726:
2725:
2724:
2710:
2709:
2708:
2699:
2662:
2639:
2596:
2584:
2573:
2555:
2528:
2515:
2502:
2476:
2465:
2453:
2442:
2425:
2414:
2402:
2380:
2362:
2356:
2342:
2311:
2293:
2268:
2255:
2211:
2206:
2201:
2198:
2192:
2183:
2177:
2168:
2162:
2148:
2145:
2115:
2072:
2035:
2015:(1–2): 149–56.
2006:
1963:
1933:
1903:(2–3): 227–32.
1890:
1861:
1818:
1783:
1740:
1711:
1682:
1656:N. Engl. J. Med
1653:
1613:(10): 3329–33.
1600:
1557:
1522:
1487:
1461:N. Engl. J. Med
1458:
1415:
1411:
1409:Further reading
1364:
1338:Curr Drug Metab
1335:
1297:
1294:
1289:
1288:
1244:
1243:
1239:
1226:
1225:
1221:
1208:
1207:
1203:
1191:
1182:
1170:
1161:
1156:
1133:
1052:View/Edit Mouse
1047:View/Edit Human
1010:
1003:
1000:Location (UCSC)
986:
965:
961:
935:
914:
910:
823:ENSG00000151552
716:
660:
624:
560:
529:
520:
515:
511:
507:
503:
499:
497:globus pallidus
495:
491:
487:
483:
469:
458:
453:
449:
445:
441:
437:
433:
431:pars reticulata
429:
425:
421:
407:
351:
338:
330:
320:
319:
318:
311:
291:
268:Gene location (
250:
237:
229:
219:
218:
217:
210:
188:
165:Gene location (
116:
103:
96:
73:
51:
17:
12:
11:
5:
2733:
2731:
2723:
2722:
2712:
2711:
2705:
2704:
2701:
2700:
2698:
2697:
2692:
2687:
2682:
2676:
2674:
2668:
2667:
2664:
2663:
2661:
2660:
2655:
2650:
2644:
2641:
2640:
2638:
2637:
2632:
2627:
2621:
2615:
2606:
2602:
2601:
2598:
2597:
2595:
2594:
2588:
2586:
2582:
2575:
2574:
2572:
2571:
2565:
2563:
2557:
2556:
2554:
2553:
2548:
2543:
2538:
2532:
2530:
2526:
2521:
2520:
2517:
2516:
2514:
2513:
2507:
2504:
2503:
2501:
2500:
2495:
2490:
2484:
2478:
2474:
2467:
2466:
2464:
2463:
2457:
2455:
2451:
2444:
2443:
2441:
2440:
2435:
2429:
2427:
2423:
2416:
2415:
2413:
2412:
2406:
2404:
2400:
2390:
2386:
2385:
2382:
2381:
2379:
2378:
2372:
2370:
2364:
2363:
2361:
2360:
2354:
2346:
2340:
2332:
2321:
2319:
2313:
2312:
2310:
2309:
2303:
2301:
2295:
2294:
2292:
2291:
2285:
2283:
2274:
2270:
2269:
2256:
2254:
2253:
2246:
2239:
2231:
2225:
2224:
2218:
2217:
2210:
2209:External links
2207:
2203:
2202:
2200:
2199:
2193:
2186:
2184:
2178:
2171:
2169:
2163:
2156:
2153:
2150:
2149:
2146:
2144:
2143:
2136:
2129:
2121:
2114:
2113:
2070:
2033:
2004:
1961:
1931:
1888:
1870:(1–2): 171–4.
1859:
1816:
1781:
1738:
1709:
1680:
1651:
1598:
1570:(5): 1921–32.
1555:
1520:
1485:
1467:(16): 785–90.
1456:
1412:
1410:
1407:
1406:
1405:
1362:
1333:
1293:
1290:
1287:
1286:
1237:
1219:
1201:
1180:
1158:
1157:
1155:
1152:
1132:
1129:
1059:
1058:
1055:
1054:
1049:
1039:
1038:
1032:
1031:
1028:
1027:
1025:
1023:
1016:
1015:
1008:
1001:
997:
996:
993:
992:
982:
981:
975:
972:
971:
957:
956:
950:
946:
945:
942:
941:
931:
930:
924:
921:
920:
906:
905:
899:
895:
894:
891:
890:
882:
881:
875:
872:
871:
863:
862:
856:
850:
849:
846:
845:
837:
836:
830:
827:
826:
818:
817:
811:
805:
804:
801:
800:
792:
791:
785:
782:
781:
773:
772:
766:
760:
759:
754:
749:
745:
744:
734:
733:
730:
729:
718:
717:
715:
714:
709:
704:
699:
694:
689:
684:
679:
674:
668:
666:
662:
661:
659:
658:
653:
648:
643:
638:
632:
630:
626:
625:
623:
622:
617:
612:
607:
602:
597:
591:
589:
585:
584:
574:
573:
570:
569:
566:
565:
557:
556:
545:
539:
538:
535:
534:
526:
525:
522:
521:
519:
518:
514:
510:
506:
502:
498:
494:
490:
486:
482:
478:
475:
474:
463:
460:
459:
457:
456:
452:
448:
444:
440:
436:
432:
428:
424:
420:
416:
413:
412:
400:
399:
391:
380:
374:
373:
370:RNA expression
362:
361:
358:
357:
349:
345:
344:
336:
333:
328:
322:
321:
312:
305:
299:
295:
294:
289:
283:
282:
274:
273:
261:
260:
257:
256:
248:
244:
243:
235:
232:
227:
221:
220:
211:
204:
198:
194:
193:
186:
180:
179:
171:
170:
158:
157:
114:
110:
109:
101:
93:
92:
88:
87:
84:
83:
80:
79:
69:
68:
60:
59:
48:
42:
41:
33:
32:
24:
23:
15:
13:
10:
9:
6:
4:
3:
2:
2732:
2721:
2718:
2717:
2715:
2696:
2693:
2691:
2688:
2686:
2683:
2681:
2678:
2677:
2675:
2673:
2672:Molybdopterin
2669:
2659:
2656:
2654:
2651:
2649:
2646:
2645:
2642:
2636:
2633:
2631:
2628:
2626:
2623:
2622:
2619:
2616:
2614:
2610:
2607:
2603:
2593:
2590:
2589:
2587:
2580:
2576:
2570:
2567:
2566:
2564:
2562:
2558:
2552:
2549:
2547:
2544:
2542:
2539:
2537:
2534:
2533:
2531:
2529:
2522:
2512:
2509:
2508:
2505:
2499:
2496:
2494:
2491:
2489:
2486:
2485:
2482:
2479:
2472:
2468:
2462:
2459:
2458:
2456:
2449:
2445:
2439:
2436:
2434:
2431:
2430:
2428:
2421:
2417:
2411:
2408:
2407:
2405:
2398:
2394:
2391:
2387:
2377:
2374:
2373:
2371:
2369:
2365:
2358:
2350:
2347:
2344:
2336:
2333:
2330:
2326:
2323:
2322:
2320:
2318:
2314:
2308:
2305:
2304:
2302:
2300:
2296:
2290:
2287:
2286:
2284:
2282:
2278:
2275:
2271:
2267:
2263:
2259:
2252:
2247:
2245:
2240:
2238:
2233:
2232:
2229:
2223:
2220:
2219:
2216:
2213:
2212:
2208:
2196:
2190:
2185:
2181:
2175:
2170:
2166:
2160:
2155:
2151:
2142:
2137:
2135:
2130:
2128:
2123:
2122:
2119:
2110:
2106:
2102:
2098:
2093:
2088:
2085:(4): 267–73.
2084:
2080:
2076:
2071:
2067:
2063:
2059:
2055:
2051:
2047:
2044:(6): 742–54.
2043:
2039:
2034:
2030:
2026:
2022:
2018:
2014:
2010:
2005:
2001:
1997:
1992:
1987:
1983:
1979:
1975:
1971:
1970:J. Med. Genet
1967:
1962:
1958:
1954:
1950:
1946:
1942:
1938:
1937:J. Biol. Chem
1932:
1928:
1924:
1920:
1916:
1911:
1906:
1902:
1898:
1894:
1889:
1885:
1881:
1877:
1873:
1869:
1865:
1860:
1856:
1852:
1847:
1842:
1838:
1834:
1830:
1826:
1822:
1817:
1813:
1809:
1804:
1799:
1795:
1791:
1790:J. Biol. Chem
1787:
1782:
1778:
1774:
1769:
1764:
1760:
1756:
1753:(2): 335–42.
1752:
1748:
1744:
1739:
1735:
1731:
1727:
1723:
1720:(3): 635–44.
1719:
1715:
1710:
1706:
1702:
1698:
1694:
1690:
1686:
1681:
1677:
1673:
1669:
1665:
1661:
1657:
1652:
1648:
1644:
1639:
1634:
1629:
1624:
1620:
1616:
1612:
1608:
1604:
1599:
1595:
1591:
1586:
1581:
1577:
1573:
1569:
1565:
1561:
1556:
1552:
1548:
1543:
1538:
1534:
1530:
1526:
1521:
1517:
1513:
1508:
1503:
1500:(2): 279–85.
1499:
1495:
1491:
1486:
1482:
1478:
1474:
1470:
1466:
1462:
1457:
1453:
1449:
1445:
1441:
1436:
1431:
1428:(4): 279–84.
1427:
1423:
1419:
1414:
1413:
1408:
1402:
1398:
1393:
1388:
1384:
1380:
1376:
1372:
1368:
1363:
1359:
1355:
1351:
1347:
1344:(2): 123–31.
1343:
1339:
1334:
1330:
1326:
1322:
1318:
1314:
1310:
1307:(6): 546–53.
1306:
1302:
1296:
1295:
1291:
1282:
1278:
1274:
1270:
1265:
1260:
1257:(6): 665–76.
1256:
1252:
1248:
1241:
1238:
1233:
1229:
1223:
1220:
1215:
1211:
1205:
1202:
1198:
1194:
1189:
1187:
1185:
1181:
1177:
1173:
1168:
1166:
1164:
1160:
1153:
1151:
1149:
1144:
1142:
1138:
1130:
1128:
1126:
1121:
1119:
1115:
1110:
1108:
1104:
1100:
1096:
1092:
1091:phenylalanine
1088:
1084:
1080:
1076:
1073:
1069:
1065:
1053:
1048:
1044:
1040:
1037:
1033:
1026:
1024:
1021:
1017:
1013:
1009:
1006:
1002:
998:
991:
989:
983:
979:
976:
970:
968:
964:
958:
954:
951:
947:
940:
938:
932:
928:
925:
919:
917:
913:
907:
903:
900:
898:RefSeq (mRNA)
896:
889:
888:
883:
879:
876:
870:
869:
864:
860:
857:
855:
851:
844:
843:
838:
834:
831:
825:
824:
819:
815:
812:
810:
806:
799:
798:
793:
789:
786:
780:
779:
774:
770:
767:
765:
761:
758:
755:
753:
750:
746:
743:
739:
735:
728:
724:
719:
713:
710:
708:
705:
703:
700:
698:
695:
693:
690:
688:
685:
683:
680:
678:
675:
673:
670:
669:
667:
664:
663:
657:
654:
652:
649:
647:
646:mitochondrion
644:
642:
639:
637:
634:
633:
631:
628:
627:
621:
618:
616:
613:
611:
608:
606:
605:NADPH binding
603:
601:
598:
596:
593:
592:
590:
587:
586:
583:
582:Gene ontology
579:
575:
563:
558:
554:
549:
546:
544:
540:
532:
527:
516:
512:
508:
504:
500:
496:
492:
488:
484:
480:
479:
476:
472:
467:
464:
454:
450:
446:
442:
438:
435:Pars compacta
434:
430:
426:
422:
418:
417:
414:
410:
405:
402:
401:
398:
396:
392:
390:
389:
385:
384:
381:
379:
375:
371:
367:
363:
355:
350:
346:
342:
337:
327:
323:
316:
309:
303:
296:
288:
284:
280:
275:
271:
266:
262:
254:
249:
245:
241:
236:
226:
222:
215:
208:
202:
195:
191:
185:
181:
177:
172:
168:
163:
159:
155:
151:
147:
143:
139:
135:
131:
127:
123:
119:
111:
106:
99:
94:
89:
78:
76:
70:
65:
62:
61:
57:
54:
47:
43:
38:
34:
30:
25:
20:
2657:
2348:
2334:
2324:
2194:
2179:
2164:
2082:
2078:
2041:
2037:
2012:
2008:
1976:(6): 465–9.
1973:
1969:
1940:
1936:
1900:
1896:
1867:
1863:
1831:(1): 45–53.
1828:
1824:
1793:
1789:
1750:
1746:
1717:
1713:
1691:(1): 67–70.
1688:
1684:
1659:
1655:
1610:
1606:
1567:
1563:
1532:
1528:
1497:
1493:
1464:
1460:
1425:
1421:
1374:
1370:
1341:
1337:
1304:
1300:
1254:
1250:
1240:
1231:
1222:
1213:
1204:
1145:
1134:
1122:
1114:chromosome 4
1111:
1101:and in some
1067:
1063:
1062:
985:
967:NP_001293069
960:
934:
916:NM_001306140
909:
885:
866:
840:
821:
795:
776:
756:
751:
610:NADH binding
393:
386:
113:External IDs
72:
2438:Formamidase
2349:degradation
2147:PDB gallery
1662:(2): 80–4.
1535:(1): 93–4.
1377:(1): 1–16.
489:Paneth cell
352:45,607,578
339:45,591,363
251:17,512,206
238:17,460,261
91:Identifiers
2579:Riboflavin
2471:Folic acid
2258:Metabolism
2079:Hum. Mutat
1825:Biochem. J
1747:Biochem. J
1714:J. Biochem
1422:Hum. Mutat
1199:, May 2017
1178:, May 2017
1154:References
1095:amino acid
397:(ortholog)
134:HomoloGene
16:Human gene
2561:Vitamin C
2525:Vitamin B
2368:Vitamin K
2317:Vitamin D
2299:Vitamin E
2281:Vitamin A
2266:cofactors
1897:FEBS Lett
1371:Biochem J
1301:Hum Genet
1118:base pair
988:NP_077198
963:NP_000311
937:NM_024236
912:NM_000320
742:Orthologs
636:cytoplasm
142:GeneCards
2714:Category
2695:Gephyrin
2397:Thiamine
2262:vitamins
2066:22653168
1927:35666601
1685:Genomics
1452:37519191
1401:10727395
1358:12003346
1329:22889048
1321:11153907
1281:24698373
1273:19067971
1195:–
1174:–
1099:proteins
1036:Wikidata
721:Sources:
447:thalamus
2109:8378188
2101:9744478
2058:9427141
2029:9373149
2000:8326489
1991:1016417
1957:8262916
1919:8137944
1884:8125298
1855:6797415
1846:1163053
1812:6746636
1777:3718470
1768:1146570
1734:3711039
1705:3666748
1676:3587329
1647:3033643
1615:Bibcode
1594:3031582
1551:2330583
1516:2116088
1507:1683733
1481:1160969
1444:7627180
1392:1220924
1292:Sources
1197:Ensembl
1176:Ensembl
1148:calcium
1070:) is a
854:UniProt
809:Ensembl
748:Species
727:QuickGO
641:cytosol
372:pattern
230:4p15.32
98:Aliases
2551:MMADHC
2546:MMACHC
2420:Niacin
2107:
2099:
2064:
2056:
2027:
1998:
1988:
1955:
1925:
1917:
1882:
1853:
1843:
1810:
1775:
1765:
1732:
1703:
1674:
1645:
1638:304863
1635:
1592:
1585:340608
1582:
1549:
1514:
1504:
1479:
1450:
1442:
1399:
1389:
1356:
1327:
1319:
1279:
1271:
1022:search
1020:PubMed
887:Q8BVI4
868:P09417
797:110391
764:Entrez
543:BioGPS
122:612676
2690:MOCS3
2685:MOCS2
2680:MOCS1
2648:PCBD1
2335:renal
2325:liver
2105:S2CID
2062:S2CID
1923:S2CID
1448:S2CID
1325:S2CID
1277:S2CID
1072:human
757:Mouse
752:Human
723:Amigo
395:Mouse
388:Human
335:Start
270:Mouse
234:Start
167:Human
130:97836
2658:QDPR
2541:MMAB
2536:MMAA
2195:1hdr
2180:1dir
2165:1dhr
2097:PMID
2054:PMID
2025:PMID
2009:Gene
1996:PMID
1953:PMID
1915:PMID
1880:PMID
1864:Gene
1851:PMID
1808:PMID
1773:PMID
1730:PMID
1701:PMID
1672:PMID
1643:PMID
1590:PMID
1547:PMID
1512:PMID
1477:PMID
1440:PMID
1397:PMID
1354:PMID
1317:PMID
1269:PMID
1125:MITF
1075:gene
1064:QDPR
778:5860
455:pons
378:Bgee
326:Band
287:Chr.
225:Band
184:Chr.
146:QDPR
118:OMIM
105:QDPR
75:1HDR
56:RCSB
53:PDBe
22:QDPR
2653:PTS
2260:of
2087:doi
2046:doi
2017:doi
2013:200
1986:PMC
1978:doi
1945:doi
1941:268
1905:doi
1901:341
1872:doi
1868:138
1841:PMC
1833:doi
1829:197
1798:doi
1794:259
1763:PMC
1755:doi
1751:234
1722:doi
1693:doi
1664:doi
1660:317
1633:PMC
1623:doi
1580:PMC
1572:doi
1537:doi
1533:160
1502:PMC
1469:doi
1465:293
1430:doi
1387:PMC
1379:doi
1375:347
1346:doi
1309:doi
1305:107
1259:doi
348:End
247:End
150:OMA
138:271
126:MGI
46:PDB
2716::
2581:(B
2527:12
2473:(B
2450:(B
2422:(B
2399:(B
2103:.
2095:.
2083:12
2081:.
2077:.
2060:.
2052:.
2042:20
2040:.
2023:.
2011:.
1994:.
1984:.
1974:30
1972:.
1968:.
1951:.
1939:.
1921:.
1913:.
1899:.
1895:.
1878:.
1866:.
1849:.
1839:.
1827:.
1823:.
1806:.
1792:.
1788:.
1771:.
1761:.
1749:.
1745:.
1728:.
1718:99
1716:.
1699:.
1687:.
1670:.
1658:.
1641:.
1631:.
1621:.
1611:84
1609:.
1605:.
1588:.
1578:.
1568:15
1566:.
1562:.
1545:.
1531:.
1527:.
1510:.
1498:47
1496:.
1492:.
1475:.
1463:.
1446:.
1438:.
1424:.
1420:.
1395:.
1385:.
1373:.
1369:.
1352:.
1340:.
1323:.
1315:.
1303:.
1275:.
1267:.
1255:21
1253:.
1249:.
1230:.
1212:.
1183:^
1162:^
1127:.
725:/
354:bp
341:bp
253:bp
240:bp
148:;
144::
140:;
136::
132:;
128::
124:;
120::
2585:)
2583:2
2477:)
2475:9
2454:)
2452:5
2426:)
2424:3
2403:)
2401:1
2359:)
2355:3
2351:(
2345:)
2341:3
2337:(
2331:)
2327:(
2250:e
2243:t
2236:v
2140:e
2133:t
2126:v
2111:.
2089::
2068:.
2048::
2031:.
2019::
2002:.
1980::
1959:.
1947::
1929:.
1907::
1886:.
1874::
1857:.
1835::
1814:.
1800::
1779:.
1757::
1736:.
1724::
1707:.
1695::
1689:1
1678:.
1666::
1649:.
1625::
1617::
1596:.
1574::
1553:.
1539::
1518:.
1483:.
1471::
1454:.
1432::
1426:5
1403:.
1381::
1360:.
1348::
1342:3
1331:.
1311::
1283:.
1261::
1234:.
1216:.
1066:(
272:)
169:)
152::
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
