309:
286:
183:
208:
315:
214:
2550:
1197:
Lerner-Ellis JP, Tirone JC, Pawelek PD, Doré C, Atkinson JL, Watkins D, Morel CF, Fujiwara TM, Moras E, Hosack AR, Dunbar GV, Antonicka H, Forgetta V, Dobson CM, Leclerc D, Gravel RA, Shoubridge EA, Coulton JW, Lepage P, Rommens JM, Morgan K, Rosenblatt DS (January 2006). "Identification of the gene
50:
2079:
1395:
Tsai AC, Morel CF, Scharer G, Yang M, Lerner-Ellis JP, Rosenblatt DS, Thomas JA (October 2007). "Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance".
2072:
1963:
Loewy AD, Niles KM, Anastasio N, et al. (2009). "Epigenetic modification of the gene for the vitamin B(12) chaperone MMACHC can result in increased tumorigenicity and methionine dependence".
2065:
1278:
Quadros EV, Jackson B, Hoffbrand AV, Linnell JC. "Interconversion of cobalamins in human lymphocytes in vitro and the influence of nitrous oxide on the synthesis of cobalamin coenzymes".
1576:
Nogueira C, Aiello C, Cerone R, et al. (2008). "Spectrum of MMACHC mutations in
Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type".
1360:
Morel CF, Lerner-Ellis JP, Rosenblatt DS (August 2006). "Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations".
1547:
Profitlich LE, Kirmse B, Wasserstein MP, et al. (2009). "High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria".
322:
221:
1539:
1082:
1438:
Sloan, Jennifer L.; Carrillo, Nuria; Adams, David; Venditti, Charles P. (1993), Adam, Margaret P.; Feldman, Jerry; Mirzaa, Ghayda M.; Pagon, Roberta A. (eds.),
764:
745:
144:
2169:
1742:
Thauvin-Robinet C, Roze E, Couvreur G, et al. (2008). "The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum".
1869:"Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)"
2619:
2595:
1475:
Froese DS, Zhang J, Healy S, Gravel RA (2009). "Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria".
1174:
1156:
2614:
2460:
2341:
1094:
308:
979:
972:
2137:
1240:
Luciana
Hannibal, Jihoe Kim, Nicola E. Brasch, Sihe Wang, David S. Rosenblatt, Ruma Banerjee, and Donald W. Jacobsen (August 2009).
1057:
The C-terminal region of the product of the MMACHC gene is similar to TonB, a bacterial protein involved in energy transduction for
285:
2328:
1143:
1122:
1139:
207:
182:
47:
115:, cblC, methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria, metabolism of cobalamin associated C
1118:
124:
2263:
2206:
321:
220:
1317:
Ben-Omran TI, Wong H, Blaser S, Feigenbaum A (May 2007). "Late-onset cobalamin-C disorder: a challenging diagnosis".
314:
213:
2588:
2318:
2240:
809:
132:
1824:"A human vitamin B12 trafficking protein uses glutathione transferase activity for processing alkylcobalamins"
1781:"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)"
1085:. The MMACHC gene product and cobalamin reductases enable the interconversion of cyano- and alkylcobalamins.
2399:
2323:
2119:
2096:
790:
2465:
1533:
1658:"Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations"
2581:
2455:
2005:
1923:
1618:
196:
111:
1261:
Watanabe F, Nakano Y. "Purification and characterization of aquacobalamin reductases from mammals".
2443:
2291:
2057:
930:
883:
1898:
1767:
1687:
1644:
1420:
1342:
1223:
156:
1912:"Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences"
955:
934:
904:
879:
2422:
2250:
2033:
1980:
1951:
1890:
1855:
1810:
1759:
1730:
1679:
1636:
1593:
1564:
1521:
1492:
1447:
1412:
1377:
1334:
1215:
1078:
104:
40:
2565:
1701:"Processing of alkylcobalamins in mammalian cells: A role for the MMACHC (cblC) gene product"
1517:
1242:"Processing of alkylcobalamins in mammalian cells: a role for the MMACHC (cblC) gene product"
2278:
2023:
2013:
1972:
1941:
1931:
1880:
1845:
1835:
1800:
1792:
1751:
1720:
1712:
1669:
1626:
1585:
1556:
1513:
1484:
1404:
1369:
1326:
1280:
Vitamin B12, Proceedings of the Third
European Symposium on Vitamin B12 and Intrinsic Factor
1207:
401:
332:
276:
231:
152:
1074:
376:
2009:
1927:
1622:
1296:
2028:
1993:
1850:
1823:
1725:
1700:
1066:
1946:
1911:
1805:
1780:
679:
674:
669:
664:
648:
643:
627:
622:
617:
612:
607:
602:
597:
592:
2608:
2502:
579:
1902:
1771:
1424:
1346:
136:
2561:
1691:
1648:
1227:
394:
173:
160:
2355:
2268:
2053:
GeneReviews/NCBI/NIH/UW entry on
Disorders of Intracellular Cobalamin Metabolism
1976:
1716:
1589:
1560:
1488:
1373:
1179:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1161:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1241:
477:
2483:
2409:
2301:
2088:
2052:
1070:
293:
190:
140:
1755:
1439:
2391:
2198:
2147:
2129:
2111:
2018:
1840:
1058:
709:
537:
415:
360:
347:
259:
246:
148:
2037:
1984:
1955:
1936:
1894:
1859:
1814:
1763:
1734:
1683:
1640:
1597:
1568:
1525:
1496:
1451:
1416:
1381:
1338:
1219:
1019:
1014:
2525:
2227:
1408:
1330:
1003:
854:
835:
1631:
1606:
1297:"Advances in the Understanding of Cobalamin Assimilation and Metabolism"
2183:
2159:
2092:
1885:
1868:
1796:
1674:
1657:
1198:
responsible for methylmalonic aciduria and homocystinuria, cblC type".
1062:
1039:
821:
776:
81:
77:
73:
69:
2381:
987:
731:
2549:
1867:
Richard E, Jorge-Finnigan A, Garcia-Villoria J, et al. (2009).
1211:
2520:
2515:
2510:
2478:
1607:"The DNA sequence and biological annotation of human chromosome 1"
694:
690:
2557:
2488:
2371:
2366:
1046:
128:
2061:
1910:
Strausberg RL, Feingold EA, Grouse LH, et al. (2002).
1656:
Lerner-Ellis JP, Anastasio N, Liu J, et al. (2009).
1032:
Methylmalonic aciduria and homocystinuria type C protein
384:
2569:
1994:"Decyanation of vitamin B12 by a trafficking chaperone"
1779:
Gerhard DS, Wagner L, Feingold EA, et al. (2004).
623:
cyanocobalamin reductase (cyanide-eliminating) activity
1605:
Gregory SG, Barlow KF, McLay KE, et al. (2006).
549:
2501:
2442:
2435:
2408:
2390:
2354:
2300:
2277:
2249:
2226:
2219:
2197:
2146:
2128:
2110:
2103:
1822:Kim J, Hannibal L, Gherasim C, et al. (2009).
1446:, Seattle (WA): University of Washington, Seattle,
948:
923:
897:
872:
1699:Hannibal L, Kim J, Brasch NE, et al. (2009).
1135:
1133:
1131:
1114:
1112:
1110:
1095:combined homocystinuria and methylmalonic acidemia
1440:"Disorders of Intracellular Cobalamin Metabolism"
331:
230:
1504:Tang H, Hao H, Tang SH, et al. (2009). "".
16:Protein-coding gene in the species Homo sapiens
1192:
1190:
1188:
1140:GRCm38: Ensembl release 89: ENSMUSG00000028690
1061:uptake. The MMACHC gene product catalyzes the
2589:
2073:
1538:: CS1 maint: DOI inactive as of April 2024 (
8:
1081:. This function has also been attributed to
1119:GRCh38: Ensembl release 89: ENSG00000132763
2596:
2582:
2448:
2439:
2311:
2223:
2107:
2080:
2066:
2058:
705:
575:
372:
271:
168:
58:
2027:
2017:
1945:
1935:
1884:
1849:
1839:
1804:
1724:
1673:
1630:
1518:10.3760/cma.j.issn.1003-9406.2009.01.014
1106:
1992:Kim J, Gherasim C, Banerjee R (2008).
1531:
18:
336:
297:
292:
235:
194:
189:
7:
2546:
2544:
2461:6-pyruvoyltetrahydropterin synthase
2342:Methylenetetrahydrofolate reductase
1506:Zhonghua Yi Xue Yi Chuan Xue Za Zhi
2568:. You can help Knowledge (XXG) by
945:
920:
894:
869:
845:
826:
800:
781:
755:
736:
554:
472:
410:
389:
14:
2138:Alpha-tocopherol transfer protein
1042:that in humans is encoded by the
613:protein homodimerization activity
2548:
2160:Sterol 27-hydroxylase or CYP27A1
1744:J. Neurol. Neurosurg. Psychiatry
320:
313:
307:
284:
219:
212:
206:
181:
2329:Serine hydroxymethyltransferase
2174:1-alpha-hydroxylase or CYP27B1
1093:Mutations are associated with
675:cobalamin biosynthetic process
538:More reference expression data
1:
2620:Human chromosome 1 gene stubs
1073:of alkylcobalamins including
670:glutathione metabolic process
305:
204:
1998:Proc. Natl. Acad. Sci. U.S.A
1916:Proc. Natl. Acad. Sci. U.S.A
2615:Genes on human chromosome 1
2264:Indoleamine 2,3-dioxygenase
2207:Vitamin K epoxide reductase
1977:10.1016/j.ymgme.2008.12.011
1717:10.1016/j.ymgme.2009.04.005
1590:10.1016/j.ymgme.2007.11.005
1561:10.1016/j.ymgme.2009.07.017
1489:10.1016/j.ymgme.2009.07.014
1374:10.1016/j.ymgme.2006.04.001
680:cobalamin metabolic process
434:stromal cell of endometrium
2636:
2543:
492:sternocleidomastoid muscle
442:mucosa of transverse colon
2474:
2451:
2337:
2314:
2188:24-hydroxylase or CYP24A1
1175:"Mouse PubMed Reference:"
1157:"Human PubMed Reference:"
1018:
1013:
1009:
1002:
986:
980:Chr 4: 116.56 – 116.57 Mb
967:
952:
927:
916:
901:
876:
865:
852:
848:
833:
829:
820:
807:
803:
788:
784:
775:
762:
758:
743:
739:
730:
715:
708:
704:
688:
578:
574:
562:
557:
548:
535:
484:
475:
422:
413:
383:
375:
371:
354:
341:
304:
283:
274:
270:
253:
240:
203:
180:
171:
167:
122:
119:
109:
102:
97:
66:
61:
44:
39:
34:
30:
26:
21:
2319:Dihydropteroate synthase
2241:Thiamine diphosphokinase
1756:10.1136/jnnp.2007.133025
508:tibialis anterior muscle
2400:L-gulonolactone oxidase
2324:Dihydrofolate reductase
2184:1,25-Dihydroxyvitamin D
2120:Retinol binding protein
2019:10.1073/pnas.0805989105
1841:10.1074/jbc.M109.057877
1520:(inactive 2024-04-26).
628:oxidoreductase activity
516:vastus lateralis muscle
488:myocardium of ventricle
2220:Water soluble vitamins
1937:10.1073/pnas.242603899
973:Chr 1: 45.5 – 45.51 Mb
512:triceps brachii muscle
2466:Sepiapterin reductase
1307:Jan; 148(2): 195–204.
1089:Clinical significance
2456:GTP cyclohydrolase I
2436:Nonvitamin cofactors
2104:Fat soluble vitamins
1409:10.1002/ajmg.a.31932
1397:Am. J. Med. Genet. A
1331:10.1002/ajmg.a.31671
1319:Am. J. Med. Genet. A
1252:Aug; 97(4): 260–266.
1083:cobalamin reductases
608:demethylase activity
524:gastrocnemius muscle
299:Chromosome 4 (mouse)
197:Chromosome 1 (human)
62:List of PDB id codes
35:Available structures
2444:Tetrahydrobiopterin
2292:Pantothenate kinase
2170:25-Hydroxyvitamin D
2010:2008PNAS..10514551K
1928:2002PNAS...9916899M
1632:10.1038/nature04727
1623:2006Natur.441..315G
618:glutathione binding
462:right adrenal gland
426:right lobe of liver
2556:This article on a
1886:10.1002/humu.21107
1797:10.1101/gr.2596504
1675:10.1002/humu.21001
810:ENSMUSG00000028690
658:Biological process
637:Cellular component
586:Molecular function
520:extraocular muscle
161:MMACHC - orthologs
2577:
2576:
2538:
2537:
2534:
2533:
2497:
2496:
2431:
2430:
2423:Riboflavin kinase
2350:
2349:
2215:
2214:
2095:, coenzymes, and
1965:Mol. Genet. Metab
1922:(26): 16899–903.
1705:Mol. Genet. Metab
1578:Mol. Genet. Metab
1549:Mol. Genet. Metab
1477:Mol. Genet. Metab
1362:Mol. Genet. Metab
1079:adenosylcobalamin
1029:
1028:
1025:
1024:
998:
997:
963:
962:
942:
941:
912:
911:
891:
890:
861:
860:
842:
841:
816:
815:
797:
796:
771:
770:
752:
751:
700:
699:
593:cobalamin binding
570:
569:
566:
565:
544:
543:
531:
530:
469:
468:
458:prefrontal cortex
367:
366:
266:
265:
93:
92:
89:
88:
45:Ortholog search:
2627:
2598:
2591:
2584:
2552:
2545:
2449:
2440:
2312:
2279:Pantothenic acid
2224:
2108:
2082:
2075:
2068:
2059:
2041:
2031:
2021:
1988:
1959:
1949:
1939:
1906:
1888:
1863:
1853:
1843:
1834:(48): 33418–24.
1818:
1808:
1775:
1738:
1728:
1695:
1677:
1652:
1634:
1617:(7091): 315–21.
1601:
1572:
1543:
1537:
1529:
1500:
1461:
1460:
1459:
1458:
1435:
1429:
1428:
1392:
1386:
1385:
1357:
1351:
1350:
1314:
1308:
1293:
1287:
1276:
1270:
1259:
1253:
1238:
1232:
1231:
1194:
1183:
1182:
1171:
1165:
1164:
1153:
1147:
1137:
1126:
1116:
1011:
1010:
982:
975:
958:
946:
937:
921:
917:RefSeq (protein)
907:
895:
886:
870:
846:
827:
801:
782:
756:
737:
706:
576:
555:
540:
500:digastric muscle
480:
478:Top expressed in
473:
438:ventricular zone
418:
416:Top expressed in
411:
390:
373:
363:
350:
339:
324:
317:
311:
300:
288:
272:
262:
249:
238:
223:
216:
210:
199:
185:
169:
163:
114:
107:
84:
59:
53:
32:
31:
19:
2635:
2634:
2630:
2629:
2628:
2626:
2625:
2624:
2605:
2604:
2603:
2602:
2541:
2539:
2530:
2493:
2470:
2427:
2415:
2404:
2386:
2359:
2346:
2333:
2307:
2296:
2284:
2273:
2256:
2245:
2233:
2211:
2193:
2187:
2173:
2142:
2124:
2099:
2086:
2049:
2044:
2004:(38): 14551–4.
1991:
1962:
1909:
1879:(11): 1558–66.
1866:
1821:
1791:(10B): 2121–7.
1778:
1741:
1698:
1655:
1604:
1575:
1546:
1530:
1503:
1474:
1470:
1468:Further reading
1465:
1464:
1456:
1454:
1437:
1436:
1432:
1394:
1393:
1389:
1359:
1358:
1354:
1316:
1315:
1311:
1294:
1290:
1277:
1273:
1263:Methods Enzymol
1260:
1256:
1246:Mol Genet Metab
1239:
1235:
1196:
1195:
1186:
1173:
1172:
1168:
1155:
1154:
1150:
1138:
1129:
1117:
1108:
1103:
1091:
1075:methylcobalamin
1069:as well as the
1055:
1020:View/Edit Mouse
1015:View/Edit Human
978:
971:
968:Location (UCSC)
954:
933:
929:
903:
882:
878:
791:ENSG00000132763
684:
653:
632:
598:protein binding
536:
527:
522:
518:
514:
510:
506:
504:temporal muscle
502:
498:
494:
490:
476:
465:
460:
456:
452:
448:
444:
440:
436:
432:
430:muscle of thigh
428:
414:
358:
345:
337:
327:
326:
325:
318:
298:
275:Gene location (
257:
244:
236:
226:
225:
224:
217:
195:
172:Gene location (
123:
110:
103:
68:
46:
17:
12:
11:
5:
2633:
2631:
2623:
2622:
2617:
2607:
2606:
2601:
2600:
2593:
2586:
2578:
2575:
2574:
2553:
2536:
2535:
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2529:
2528:
2523:
2518:
2513:
2507:
2505:
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2498:
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2486:
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2475:
2472:
2471:
2469:
2468:
2463:
2458:
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2437:
2433:
2432:
2429:
2428:
2426:
2425:
2419:
2417:
2413:
2406:
2405:
2403:
2402:
2396:
2394:
2388:
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2384:
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2352:
2351:
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2338:
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2331:
2326:
2321:
2315:
2309:
2305:
2298:
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2288:
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2274:
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2237:
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2210:
2209:
2203:
2201:
2195:
2194:
2192:
2191:
2185:
2177:
2171:
2163:
2152:
2150:
2144:
2143:
2141:
2140:
2134:
2132:
2126:
2125:
2123:
2122:
2116:
2114:
2105:
2101:
2100:
2087:
2085:
2084:
2077:
2070:
2062:
2056:
2055:
2048:
2047:External links
2045:
2043:
2042:
1989:
1960:
1907:
1864:
1819:
1776:
1739:
1696:
1668:(7): 1072–81.
1653:
1602:
1573:
1544:
1501:
1471:
1469:
1466:
1463:
1462:
1430:
1403:(20): 2430–4.
1387:
1352:
1309:
1288:
1271:
1254:
1233:
1212:10.1038/ng1683
1184:
1166:
1148:
1127:
1105:
1104:
1102:
1099:
1090:
1087:
1067:cyanocobalamin
1054:
1051:
1027:
1026:
1023:
1022:
1017:
1007:
1006:
1000:
999:
996:
995:
993:
991:
984:
983:
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830:
824:
818:
817:
814:
813:
805:
804:
798:
795:
794:
786:
785:
779:
773:
772:
769:
768:
760:
759:
753:
750:
749:
741:
740:
734:
728:
727:
722:
717:
713:
712:
702:
701:
698:
697:
686:
685:
683:
682:
677:
672:
667:
661:
659:
655:
654:
652:
651:
646:
640:
638:
634:
633:
631:
630:
625:
620:
615:
610:
605:
600:
595:
589:
587:
583:
582:
572:
571:
568:
567:
564:
563:
560:
559:
552:
546:
545:
542:
541:
533:
532:
529:
528:
526:
525:
521:
517:
513:
509:
505:
501:
497:
493:
489:
485:
482:
481:
470:
467:
466:
464:
463:
459:
455:
454:left ventricle
451:
447:
443:
439:
435:
431:
427:
423:
420:
419:
407:
406:
398:
387:
381:
380:
377:RNA expression
369:
368:
365:
364:
356:
352:
351:
343:
340:
335:
329:
328:
319:
312:
306:
302:
301:
296:
290:
289:
281:
280:
268:
267:
264:
263:
255:
251:
250:
242:
239:
234:
228:
227:
218:
211:
205:
201:
200:
193:
187:
186:
178:
177:
165:
164:
121:
117:
116:
108:
100:
99:
95:
94:
91:
90:
87:
86:
64:
63:
55:
54:
43:
37:
36:
28:
27:
24:
23:
15:
13:
10:
9:
6:
4:
3:
2:
2632:
2621:
2618:
2616:
2613:
2612:
2610:
2599:
2594:
2592:
2587:
2585:
2580:
2579:
2573:
2571:
2567:
2563:
2559:
2554:
2551:
2547:
2542:
2527:
2524:
2522:
2519:
2517:
2514:
2512:
2509:
2508:
2506:
2504:
2503:Molybdopterin
2500:
2490:
2487:
2485:
2482:
2480:
2477:
2476:
2473:
2467:
2464:
2462:
2459:
2457:
2454:
2453:
2450:
2447:
2445:
2441:
2438:
2434:
2424:
2421:
2420:
2418:
2411:
2407:
2401:
2398:
2397:
2395:
2393:
2389:
2383:
2380:
2378:
2375:
2373:
2370:
2368:
2365:
2364:
2362:
2360:
2353:
2343:
2340:
2339:
2336:
2330:
2327:
2325:
2322:
2320:
2317:
2316:
2313:
2310:
2303:
2299:
2293:
2290:
2289:
2287:
2280:
2276:
2270:
2267:
2265:
2262:
2261:
2259:
2252:
2248:
2242:
2239:
2238:
2236:
2229:
2225:
2222:
2218:
2208:
2205:
2204:
2202:
2200:
2196:
2189:
2181:
2178:
2175:
2167:
2164:
2161:
2157:
2154:
2153:
2151:
2149:
2145:
2139:
2136:
2135:
2133:
2131:
2127:
2121:
2118:
2117:
2115:
2113:
2109:
2106:
2102:
2098:
2094:
2090:
2083:
2078:
2076:
2071:
2069:
2064:
2063:
2060:
2054:
2051:
2050:
2046:
2039:
2035:
2030:
2025:
2020:
2015:
2011:
2007:
2003:
1999:
1995:
1990:
1986:
1982:
1978:
1974:
1970:
1966:
1961:
1957:
1953:
1948:
1943:
1938:
1933:
1929:
1925:
1921:
1917:
1913:
1908:
1904:
1900:
1896:
1892:
1887:
1882:
1878:
1874:
1870:
1865:
1861:
1857:
1852:
1847:
1842:
1837:
1833:
1829:
1828:J. Biol. Chem
1825:
1820:
1816:
1812:
1807:
1802:
1798:
1794:
1790:
1786:
1782:
1777:
1773:
1769:
1765:
1761:
1757:
1753:
1749:
1745:
1740:
1736:
1732:
1727:
1722:
1718:
1714:
1710:
1706:
1702:
1697:
1693:
1689:
1685:
1681:
1676:
1671:
1667:
1663:
1659:
1654:
1650:
1646:
1642:
1638:
1633:
1628:
1624:
1620:
1616:
1612:
1608:
1603:
1599:
1595:
1591:
1587:
1584:(4): 475–80.
1583:
1579:
1574:
1570:
1566:
1562:
1558:
1554:
1550:
1545:
1541:
1535:
1527:
1523:
1519:
1515:
1511:
1507:
1502:
1498:
1494:
1490:
1486:
1483:(4): 338–43.
1482:
1478:
1473:
1472:
1467:
1453:
1449:
1445:
1441:
1434:
1431:
1426:
1422:
1418:
1414:
1410:
1406:
1402:
1398:
1391:
1388:
1383:
1379:
1375:
1371:
1368:(4): 315–21.
1367:
1363:
1356:
1353:
1348:
1344:
1340:
1336:
1332:
1328:
1325:(9): 979–84.
1324:
1320:
1313:
1310:
1306:
1302:
1301:Br J Haematol
1298:
1295:Quadros, EV.
1292:
1289:
1285:
1281:
1275:
1272:
1269:;281;295-305.
1268:
1264:
1258:
1255:
1251:
1247:
1243:
1237:
1234:
1229:
1225:
1221:
1217:
1213:
1209:
1206:(1): 93–100.
1205:
1201:
1193:
1191:
1189:
1185:
1180:
1176:
1170:
1167:
1162:
1158:
1152:
1149:
1145:
1141:
1136:
1134:
1132:
1128:
1124:
1120:
1115:
1113:
1111:
1107:
1100:
1098:
1096:
1088:
1086:
1084:
1080:
1076:
1072:
1068:
1064:
1060:
1052:
1050:
1048:
1045:
1041:
1037:
1033:
1021:
1016:
1012:
1008:
1005:
1001:
994:
992:
989:
985:
981:
977:
974:
970:
966:
959:
957:
951:
947:
944:
938:
936:
932:
926:
922:
919:
915:
908:
906:
900:
896:
893:
887:
885:
881:
875:
871:
868:
866:RefSeq (mRNA)
864:
857:
856:
851:
847:
844:
838:
837:
832:
828:
825:
823:
819:
812:
811:
806:
802:
799:
793:
792:
787:
783:
780:
778:
774:
767:
766:
761:
757:
754:
748:
747:
742:
738:
735:
733:
729:
726:
723:
721:
718:
714:
711:
707:
703:
696:
692:
687:
681:
678:
676:
673:
671:
668:
666:
665:demethylation
663:
662:
660:
657:
656:
650:
647:
645:
642:
641:
639:
636:
635:
629:
626:
624:
621:
619:
616:
614:
611:
609:
606:
604:
601:
599:
596:
594:
591:
590:
588:
585:
584:
581:
580:Gene ontology
577:
573:
561:
556:
553:
551:
547:
539:
534:
523:
519:
515:
511:
507:
503:
499:
496:soleus muscle
495:
491:
487:
486:
483:
479:
474:
471:
461:
457:
453:
450:right auricle
449:
445:
441:
437:
433:
429:
425:
424:
421:
417:
412:
409:
408:
405:
403:
399:
397:
396:
392:
391:
388:
386:
382:
378:
374:
370:
362:
357:
353:
349:
344:
334:
330:
323:
316:
310:
303:
295:
291:
287:
282:
278:
273:
269:
261:
256:
252:
248:
243:
233:
229:
222:
215:
209:
202:
198:
192:
188:
184:
179:
175:
170:
166:
162:
158:
154:
150:
146:
142:
138:
134:
130:
126:
118:
113:
106:
101:
96:
85:
83:
79:
75:
71:
65:
60:
57:
56:
52:
49:
42:
38:
33:
29:
25:
20:
2570:expanding it
2562:chromosome 1
2555:
2540:
2376:
2179:
2165:
2155:
2001:
1997:
1971:(4): 261–7.
1968:
1964:
1919:
1915:
1876:
1872:
1831:
1827:
1788:
1784:
1750:(6): 725–8.
1747:
1743:
1711:(4): 260–6.
1708:
1704:
1665:
1661:
1614:
1610:
1581:
1577:
1555:(4): 344–8.
1552:
1548:
1534:cite journal
1509:
1505:
1480:
1476:
1455:, retrieved
1444:GeneReviews®
1443:
1433:
1400:
1396:
1390:
1365:
1361:
1355:
1322:
1318:
1312:
1304:
1300:
1291:
1283:
1279:
1274:
1266:
1262:
1257:
1249:
1245:
1236:
1203:
1199:
1178:
1169:
1160:
1151:
1092:
1071:dealkylation
1056:
1043:
1035:
1031:
1030:
953:
931:NP_001317469
928:
902:
884:NM_001330540
877:
853:
834:
808:
789:
763:
744:
724:
719:
400:
393:
359:116,565,603
346:116,559,476
120:External IDs
67:
2269:Formamidase
2180:degradation
1512:(1): 62–5.
1286:;1045-1054.
1063:decyanation
603:FAD binding
338:4|4 D1
258:45,513,382
245:45,500,300
98:Identifiers
2609:Categories
2410:Riboflavin
2302:Folic acid
2089:Metabolism
1873:Hum. Mutat
1785:Genome Res
1662:Hum. Mutat
1457:2024-02-24
1200:Nat. Genet
1146:, May 2017
1125:, May 2017
1101:References
404:(ortholog)
141:HomoloGene
2560:on human
2392:Vitamin C
2356:Vitamin B
2199:Vitamin K
2148:Vitamin D
2130:Vitamin E
2112:Vitamin A
2097:cofactors
1059:cobalamin
956:NP_080238
935:NP_056321
905:NM_025962
880:NM_015506
710:Orthologs
649:cytoplasm
149:GeneCards
2526:Gephyrin
2228:Thiamine
2093:vitamins
2038:18779575
1985:19200761
1956:12477932
1903:42657972
1895:19760748
1860:19801555
1815:15489334
1772:23493993
1764:18245139
1735:19447654
1684:19370762
1641:16710414
1598:18164228
1569:19767224
1526:19199254
1497:19700356
1452:20301503
1425:19372503
1417:17853453
1382:16714133
1347:19791175
1339:17431913
1220:16311595
1142:–
1121:–
1053:Function
1004:Wikidata
689:Sources:
446:testicle
2029:2567227
2006:Bibcode
1924:Bibcode
1851:2785186
1726:2709701
1692:2767341
1649:4431933
1619:Bibcode
1228:7688576
1144:Ensembl
1123:Ensembl
1040:protein
1038:) is a
822:UniProt
777:Ensembl
716:Species
695:QuickGO
644:cytosol
379:pattern
137:1914346
105:Aliases
2382:MMADHC
2377:MMACHC
2251:Niacin
2036:
2026:
1983:
1954:
1947:139241
1944:
1901:
1893:
1858:
1848:
1813:
1806:528928
1803:
1770:
1762:
1733:
1723:
1690:
1682:
1647:
1639:
1611:Nature
1596:
1567:
1524:
1495:
1450:
1423:
1415:
1380:
1345:
1337:
1226:
1218:
1044:MMACHC
1036:MMACHC
990:search
988:PubMed
855:Q9CZD0
836:Q9Y4U1
732:Entrez
550:BioGPS
237:1p34.1
153:MMACHC
129:609831
112:MMACHC
22:MMACHC
2564:is a
2521:MOCS3
2516:MOCS2
2511:MOCS1
2479:PCBD1
2166:renal
2156:liver
1899:S2CID
1768:S2CID
1688:S2CID
1645:S2CID
1421:S2CID
1343:S2CID
1224:S2CID
765:67096
746:25974
725:Mouse
720:Human
691:Amigo
402:Mouse
395:Human
342:Start
277:Mouse
241:Start
174:Human
145:12082
2566:stub
2558:gene
2489:QDPR
2372:MMAB
2367:MMAA
2034:PMID
1981:PMID
1952:PMID
1891:PMID
1856:PMID
1811:PMID
1760:PMID
1731:PMID
1680:PMID
1637:PMID
1594:PMID
1565:PMID
1540:link
1522:PMID
1493:PMID
1448:PMID
1413:PMID
1401:143A
1378:PMID
1335:PMID
1323:143A
1305:2010
1284:1979
1267:1997
1250:2009
1216:PMID
1077:and
1047:gene
385:Bgee
333:Band
294:Chr.
232:Band
191:Chr.
125:OMIM
82:3SOM
78:3SC0
74:3SBZ
70:3SBY
51:RCSB
48:PDBe
2484:PTS
2091:of
2024:PMC
2014:doi
2002:105
1973:doi
1942:PMC
1932:doi
1881:doi
1846:PMC
1836:doi
1832:284
1801:PMC
1793:doi
1752:doi
1721:PMC
1713:doi
1670:doi
1627:doi
1615:441
1586:doi
1557:doi
1514:doi
1485:doi
1405:doi
1370:doi
1327:doi
1208:doi
1065:of
558:n/a
355:End
254:End
157:OMA
133:MGI
41:PDB
2611::
2412:(B
2358:12
2304:(B
2281:(B
2253:(B
2230:(B
2032:.
2022:.
2012:.
2000:.
1996:.
1979:.
1969:96
1967:.
1950:.
1940:.
1930:.
1920:99
1918:.
1914:.
1897:.
1889:.
1877:30
1875:.
1871:.
1854:.
1844:.
1830:.
1826:.
1809:.
1799:.
1789:14
1787:.
1783:.
1766:.
1758:.
1748:79
1746:.
1729:.
1719:.
1709:97
1707:.
1703:.
1686:.
1678:.
1666:30
1664:.
1660:.
1643:.
1635:.
1625:.
1613:.
1609:.
1592:.
1582:93
1580:.
1563:.
1553:98
1551:.
1536:}}
1532:{{
1510:26
1508:.
1491:.
1481:98
1479:.
1442:,
1419:.
1411:.
1399:.
1376:.
1366:88
1364:.
1341:.
1333:.
1321:.
1303:.
1299:.
1282:.
1265:.
1248:.
1244:.
1222:.
1214:.
1204:38
1202:.
1187:^
1177:.
1159:.
1130:^
1109:^
1097:.
1049:.
693:/
361:bp
348:bp
260:bp
247:bp
155:;
151::
147:;
143::
139:;
135::
131:;
127::
80:,
76:,
72:,
2597:e
2590:t
2583:v
2572:.
2416:)
2414:2
2308:)
2306:9
2285:)
2283:5
2257:)
2255:3
2234:)
2232:1
2190:)
2186:3
2182:(
2176:)
2172:3
2168:(
2162:)
2158:(
2081:e
2074:t
2067:v
2040:.
2016::
2008::
1987:.
1975::
1958:.
1934::
1926::
1905:.
1883::
1862:.
1838::
1817:.
1795::
1774:.
1754::
1737:.
1715::
1694:.
1672::
1651:.
1629::
1621::
1600:.
1588::
1571:.
1559::
1542:)
1528:.
1516::
1499:.
1487::
1427:.
1407::
1384:.
1372::
1349:.
1329::
1230:.
1210::
1181:.
1163:.
1034:(
279:)
176:)
159::
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
