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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for MMAB (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID326625
Official gene symbolMMAB
Full namemethylmalonic aciduria (cobalamin deficiency) cblB type
Aliases,ATR,MGC20496,cblB,cob,
Gene summaryThis 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]
LocationChromosome: 12   Locus: 12q24
Gene position110011358 - 109991520  Map Viewer
Gene orientationminus
Gene size19839 bp
Gene sequence
OMIM ID607568