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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.
Gene Name: | methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria |
Synonyms: | MMACHC, RP11-291L19.3, DKFZP564I122 |
Target Sequences: | AL080062 CAB45693.2 Q9Y4U1 |
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