Species Human Entrez 326625 | Human Mouse Ensembl ENSG00000139428 | |
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Aliases MMAB, ATR, CFAP23, cblB, cob, methylmalonic aciduria (cobalamin deficiency) cblB type External IDs MGI: 1924947 HomoloGene: 12680 GeneCards: MMAB | ||
Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial is an enzyme that in humans is encoded by the MMAB gene.
Contents
Function
This gene encodes an enzyme (cob(I)yrinic acid a,c-diamide adenosyltransferase) that catalyzes the final step in the conversion of vitamin B12 into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase.
Clinical significance
Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group.
References
MMAB Wikipedia(Text) CC BY-SA