Entrez gene ID | | 326625 |
Official gene symbol | | MMAB |
Full name | | methylmalonic aciduria (cobalamin deficiency) cblB type |
Aliases | | ,ATR,MGC20496,cblB,cob, |
Gene summary | | This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. [provided by RefSeq] |
Location | | Chromosome: 12 Locus: 12q24 |
Gene position | | 110011358 - 109991520 Map Viewer |
Gene orientation | | minus |
Gene size | | 19839 bp |
Gene sequence |
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OMIM ID | | 607568 |
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