ECH1
Description
The ECH1 (enoyl-CoA hydratase 1) is a protein-coding gene located on chromosome 19.
The ECH1 gene encodes a mitochondrial enzyme, Δ3,5-Δ2,4-dienoyl-CoA isomerase, belonging to the hydratase/isomerase superfamily. It shares sequence similarity with enoyl-CoA hydratases, particularly within a conserved domain. This protein is localized to peroxisomes and functions in the fatty acid beta-oxidation pathway, specifically in the isomerization of 3-trans,5-cis-dienoyl-CoA to 2-trans,4-trans-dienoyl-CoA. The rat ortholog, found in both peroxisomes and mitochondria, exhibits similar isomerase activity. The expression of the rat gene is upregulated by peroxisome proliferators.
Isomerizes 3-trans,5-cis-dienoyl-CoA to 2-trans,4-trans-dienoyl-CoA, a key step in fatty acid beta-oxidation.
ECH1 is also known as HPXEL.
Associated Diseases
- laryngotracheoesophageal cleft
- breast cancer
- cancer
- type 2 diabetes mellitus
- Duchenne muscular dystrophy
- gnathodiaphyseal dysplasia
