Gene: MMACHC
Alternate names for this Gene: 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.
Gene is located in Chromosome: 1
Location in Chromosome : 1p34.1
Description of this Gene: metabolism of cobalamin associated C
Type of Gene: protein-coding
Gene: CCDC163
Alternate names for this Gene: C1orf231|CCDC163P
Gene Summary:
Gene is located in Chromosome: 1
Location in Chromosome : 1p34.1
Description of this Gene: coiled-coil domain containing 163
Type of Gene: protein-coding