MECR Gene Summary [Human]
The protein encoded by this gene is an oxidoreductase that catalyzes the last step in mitochondrial fatty acid synthesis. Defects in this gene are a cause of childhood-onset dystonia and optic atrophy. [provided by RefSeq, Mar 2017]
Details
| Type | Protein Coding |
| Official Symbol | MECR |
| Official Name | mitochondrial trans-2-enoyl-CoA reductase [Source:HGNC Symbol;Acc:HGNC:19691] |
| Ensembl ID | ENSG00000116353 |
| Bio databases IDs | |
| Aliases | mitochondrial trans-2-enoyl-CoA reductase, nuclear receptor binding factor 1, mitochondrial 2-enoyl thioester reductase |
| Synonyms | CGI-63, DYTOABG, ETR1, FASN2B, mitochondrial trans-2-enoyl-CoA reductase, NRBF-1, NRBF1P, OPA16 |
| 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 MECR often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- enoyl-[acyl-carrier protein] reductase
- ligand-dependent nuclear receptor interactor
- MDR
- Zinc-binding dehydrogenase
- leukotriene B4 12-hydroxydehydrogenase/15-oxo-prostaglandin 13-reductase
- enzyme
- receptor binding
- Enoylreductase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- breast cancer
- childhood-onset dystonia with optic atrophy and abnormal basal ganglia
- androgenic alopecia
- growth failure
- Leigh syndrome
- optic atrophy type 16
- schizophrenia
- mitochondrial disorder
- diabetes mellitus
regulated by
- NKX2-2-AS1
- KRAS
- TCTN1
- SPP1
- B lymphocytes
- ETNPPL
- cantharidin
- tetrachlorodibenzodioxin
- GABA
- methotrexate
regulates
- fatty acid
- glycerol
- trans-hex-2-enoyl-coenzyme A
- hexanoyl-coenzyme A
- ceramide
- iron ion
role in cell
- growth
- abnormality
- homeostasis in
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
- mitochondrial fraction
- Nucleus
- Mitochondria
- cytosol
- mitochondrial matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MECR gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- fatty acid biosynthetic process
- fatty acid metabolic process
Cellular Component
Where in the cell the gene product is active
- nucleus
- mitochondrial matrix
- mitochondrion