Gene Symbol | MMACHC |
Entrez Gene ID | 25974 |
Full Name | methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria |
Synonyms | cblC |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Oct 2009]. |
Disorder MIM: | |
Disorder Html: | Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3) |