Species Human Entrez 25974 | Human Mouse Ensembl ENSG00000132763 | |
Aliases MMACHC, cblC, methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria External IDs MGI: 1914346 HomoloGene: 12082 GeneCards: MMACHC | ||
Methylmalonic aciduria and homocystinuria type C protein also known as MMACHC is a protein that in humans is encoded by the MMACHC gene.
Contents
Function
The C-terminal region of the product of the MMACHC gene is similar to TonB, a bacterial protein involved in energy transduction for cobalamin uptake. The MMACHC gene product catalyzes the decyanation of cyanocobalamin as well as the dealkylation of alkylcobalamins including methylcobalamin and adenosylcobalamin. This function has also been attributed to cobalamin reductases. The MMACHC gene product and cobalamin reductases enable the interconversion of cyano- and alkylcobalamins.
Clinical significance
Mutations are associated with methylmalonic acidemia.
References
MMACHC Wikipedia(Text) CC BY-SA