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

rs12042903 in MMACHC;CCDC163 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs777251123 in MMACHC;CCDC163 gene and Methylmalonic acidemia with homocystinuria PMID 19760748 2009 Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC).