Mmachc methylmalonic aciduria cblC type, with homocystinuria [ Mus musculus (house mouse) ]
Source: NCBI Gene (ID 67096)
Source: NCBI Gene (ID 67096)
Symbol: Mmachc
Full name: methylmalonic aciduria cblC type, with homocystinuria
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Also known as: 1810037K07Rik; CblC
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]
Expression: Ubiquitous expression in heart adult (RPKM 27.1), testis adult (RPKM 12.8) and 27 other tissues
Orthologs: human
Gene size: 5952bp
Exon count: 4