1. Gene
  2. Mmachc - methylmalonic aciduria cblC type, with homocystinuria Gene

Mmachc - methylmalonic aciduria cblC type, with homocystinuria Gene

Mus musculus

Also known as CblC; 1810037K07Rik

Gene ID: 67096 | Gene type: protein coding

About Mmachc

Summary

Predicted to enable several functions, including anion binding activity; cyanocobalamin reductase (cyanide-eliminating) activity; and protein homodimerization activity. Predicted to be involved in cobalamin metabolic process; demethylation; and glutathione metabolic process. Located in mitochondrion. Is expressed in several structures, including embryo ectoderm; gut; heart; lung; and mesonephros mesenchyme. Used to study methylmalonic aciduria and homocystinuria type cblC. Human ortholog(s) of this gene implicated in methylmalonic aciduria and homocystinuria type cblC. Orthologous to human MMACHC (metabolism of cobalamin associated C). [provided by Alliance of Genome Resources, Apr 2022]

Mmachc Products(1)

mRNA Protein Name
NM_025962.3 NP_080238.2 cyanocobalamin reductase / alkylcobalamin dealkylase
Protein Preferred Names Protein Names

cyanocobalamin reductase / alkylcobalamin dealkylase

alkylcobalamin:glutathione S-alkyltransferase

cyanocobalamin reductase (cyanide-eliminating)

methylmalonic aciduria and homocystinuria type C protein homolog

Orthologs Information

Species Symbol Source ID
Homo sapiens Mmachc NCBI NCBI:25974