MMADHC Back

methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria

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NCBI Description of MMADHC
This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.

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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

MMADHC is highly significantly mutated in
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MMADHC is significantly mutated in
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MMADHC 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 MMADHC