methylmalonic aciduria (cobalamin deficiency) cblA type

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NCBI Description of MMAA

The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments.

Community Annotation of MMAA Add / Edit MMAA: Annotations

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Figure notes

• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


MMAA is highly significantly mutated in
MMAA is significantly mutated in
MMAA is near significance in

Click on a tumor type to see its full list of significant genes.

Data details

Mutation list for MMAA