MMUT Gene Summary [Human]
This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | MMUT |
| Official Name | methylmalonyl-CoA mutase [Source:HGNC Symbol;Acc:HGNC:7526] |
| Ensembl ID | ENSG00000146085 |
| Bio databases IDs | |
| Aliases | methylmalonyl-CoA mutase |
| Synonyms | D230010K02RIK, LOC100361295, LOC100365121, MCM, methylmalonyl-CoA mutase, methylmalonyl-Coenzyme A mutase, MMCOAMUT, MUT, RGD1564912 |
| 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 MMUT often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- vitamin binding
- methylmalonyl-CoA mutase
- B12-binding_like
- GTPase
- enzyme
- protein binding
- identical protein binding
- B12 binding domain
- methylmalonyl-CoA mutase C-terminal domain
- binding protein
- MM_CoA_mutase
- protein homodimerization
- tetrapyrrole binding
Pathways
Biological processes and signaling networks where the MMUT gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- impaired glucose tolerance
- HIV infection
- infection
- neoplasia
- pancreatic cancer
- methylmalonic acidemia
- Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
- cobalamin deficiency
- hyperthyroidism
- pernicious anemia
role in cell
- formation
- formation in
- abnormal morphology
- function
- enlargement in
- enlargement
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
- Mitochondria
- mitochondrial matrix
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MMUT gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- post-embryonic development
- propionate metabolic process, methylmalonyl pathway
- homocysteine metabolic process
- positive regulation of GTPase activity
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- mitochondrial matrix
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- modified amino acid binding
- identical protein binding
- protein homodimerization activity
- protein binding
- metal ion binding
- GTPase activity
- cobalamin binding
- methylmalonyl-CoA mutase activity