Entrez gene ID | | 25974 |
Official gene symbol | | MMACHC |
Full name | | methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria |
Aliases | | ,DKFZp564I122,FLJ25671,RP11-291L19.3,cblC, |
Gene 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] |
Location | | Chromosome: 1 Locus: 1p34.1 |
Gene position | | 45965856 - 45976739 Map Viewer |
Gene orientation | | plus |
Gene size | | 10884 bp |
Gene sequence |
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OMIM ID | | 609831 |
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