ECHS1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human ECHS1 wild-type allele is located in the vicinity of 10q26.3 and is approximately 11 kb in length. This allele, which encodes enoyl-CoA hydratase, mitochondrial protein, is involved in mitochondrial fatty acid beta-oxidation and the metabolism of valine. Mutation of the gene is associated with mitochondrial short-chain enoyl-CoA hydratase 1 deficiency.

**Synonyms:** - ECHS1D - Enoyl Coenzyme A Hydratase, Short Chain, 1, Mitochondrial Gene - Enoyl-CoA Hydratase, Short Chain 1 wt Allele - Enoyl-CoA Hydratase, Short Chain, 1, Mitochondrial Gene - Enoyl-CoA Hydratase, Short-Chain, 1, Mitochondrial Gene - SCEH - mECH - mECH1