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MMAB 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. Alternatively spliced transcript variants have been found.
Gene Name: | methylmalonic aciduria (cobalamin deficiency) cblB type |
Synonyms: | MMAB, COB |
Target Sequences: | Q96EY8 Q96EY8 |
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