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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
mitochondrial trans-2-enoyl-CoA reductase
Summary
- Gene Symbol
-
- MECR
- Aliases
-
- CGI-63
- ETR1
- FASN2B
- NRBF1
- mitochondrial 2-enoyl thioester reductase
- nuclear receptor binding factor 1
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Alternative splicing
- Cytoplasm
- Disease variant
- Dystonia
- Fatty acid biosynthesis
- Mitochondrion
- NADP
- Nucleus
- Oxidoreductase
- Reference proteome
- Transit peptide
- Proteins
| UniProt | Protein Name |
|---|---|
| Q9BV79 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| fatty acid metabolic process | ||
| fatty acid biosynthetic process |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| nucleus | ||
| mitochondrial matrix |
|
|
| mitochondrion |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:529 | blepharospasm | |
| DOID:5419 | schizophrenia | |
| DOID:543 | dystonia | |
| DOID:5672 | large intestine cancer | |
| DOID:5723 | optic atrophy | |
| DOID:9256 | colorectal cancer | |
| DOID:9649 | congenital nystagmus | |
| DOID:9650 | pathologic nystagmus | |
| DOID:9854 | lingual-facial-buccal dyskinesia |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000505 | Visual impairment |
| HP:0000514 | Slow saccadic eye movements |
| HP:0000543 | Optic disc pallor |
| HP:0000551 | Color vision defect |
| HP:0000572 | Visual loss |
| HP:0000580 | Pigmentary retinopathy |
| HP:0000603 | Central scotoma |
| HP:0000639 | Nystagmus |
| Disease ID | Disease Name |
|---|---|
| ORPHA:508093 |
|
| OMIM:620629 |
|
| OMIM:617282 |
|
PubChem Disease
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP001079
- Gene Name
- mitochondrial trans-2-enoyl-CoA reductase
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 114044753 | VOMUR17888 | ||
| 113877769 | BOBOX38628 | ||
| 105863490 | MICMU13115 | ||
| 100945529 | OTOGA02798 | ||
| 101075341 | TAKRU46584 | ||
| 102024181 | CHILA13476 | ||
| 105708481 | AOTNA06524 | ||
| 110206189 | PHACI03154 | ||
| 101029298 | SAIBB28753 | ||
| 101606936 | JACJA23281 |
