MMACHC Back

methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria

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NCBI Description of MMACHC
The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The extent of this transcript is supported by transcript alignments.

Community Annotation of MMACHC Add / Edit MMACHC: 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

MMACHC is highly significantly mutated in
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MMACHC is significantly mutated in
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MMACHC 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 MMACHC