Protein Name methylmalonic aciduria cblC type, with homocystinuria
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
  • cyanocobalamin reductase / alkylcobalamin dealkylase
  • alkylcobalamin:glutathione S-alkyltransferase
  • cyanocobalamin reductase (cyanide-eliminating)
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Properties