Official Full Name
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
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.
MMACHC; methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria; methylmalonic aciduria and homocystinuria type C protein; cblC; DKFZP564I122; 1810037K07Rik; BOS_3654; FLJ25671; Methylmalonic aciduria (cobalamin deficiency) cblC type with homocystinuria; Methylmalonic aciduria and homocystinuria type C protein homolog; MGC134307; OTTHUMP00000009243; RP11 291L19.3; RP23-177C18.3; RP11-291L19.3; fc29d04; wu:fc29d04; si:zfos-47c12.1