Protein Name | methylmalonic aciduria cblC type, with homocystinuria |
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Organism | Mus musculus |
Gene ID | 67096 |
Gene Symbol | Mmachc |
UniProt | Q9CZD0 (MMAC_MOUSE) |
Relationships |
Total Number of functionally related compound(s) :
5
Total Number of Articles : 4 |
Description |
methylmalonic aciduria cblC type, with homocystinuria |
Gene 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] |
synonyms |
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Properties | |