MMAB Back

methylmalonic aciduria (cobalamin deficiency) cblB type

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NCBI Description of MMAB

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. Alternatively spliced transcript variants have been found.

Community Annotation of MMAB Add / Edit MMAB: 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).


Legend

MMAB is highly significantly mutated in
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MMAB is significantly mutated in
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MMAB is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


Mutation list for MMAB