MMACHC Gene Summary [Human]
The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]
Details
| Type | Protein Coding |
| Official Symbol | MMACHC |
| Official Name | metabolism of cobalamin associated C [Source:HGNC Symbol;Acc:HGNC:24525] |
| Ensembl ID | ENSG00000132763 |
| Bio databases IDs | |
| Aliases | metabolism of cobalamin associated C |
| Synonyms | 1810037K07Rik, CblC, metabolism of cobalamin associated C, methylmalonic aciduria cblC type, with homocystinuria, RGD1310806 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MMACHC often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- FAD binding
- binding protein
- oxidoreductase
- metal ion oxidising:NAD or NADP oxidoreductase
- Methylmalonic aciduria and homocystinuria type C protein and similar proteins
- protein homodimerization
- demethylase activity
- enzyme
- protein binding
- Non-methyl alkyl or aryl group transferase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- methylmalonic aciduria with homocystinuria cblC type
- retinal dystrophy
- Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
- hereditary disorder
- digenic methylmalonic aciduria with homocystinuria cblC type
- atypical hemolytic uremic syndrome
- microphthalmia
- methylmalonic aciduria with homocystinuria cblD type
- anophthalmia
- cleft face
regulated by
- lenalidomide
- BRD4
- THZ531
regulates
- glutathione
- cyanocobalamin
- mecobalamin
- cob(I)alamin
- homocysteine
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MMACHC gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- glutathione metabolic process
- cobalamin metabolic process
- demethylation
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- cytosol
Molecular Function
What the gene product does at the molecular level
- FAD binding
- protein binding
- protein homodimerization activity
- glutathione binding
- oxidoreductase activity
- demethylase activity
- cobalamin binding
- transferase activity
- cyanocobalamin reductase (cyanide-eliminating) activity