EHHADH wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human EHHADH wild-type allele is located in the vicinity of 3q27.2 and is approximately 91 kb in length. This allele, which encodes peroxisomal bifunctional enzyme protein, plays a role in the metabolism of long chain and branched-chain fatty acids, and medium- and long-chain dicarboxylic fatty acids. Mutations in the gene are associated with Fanconi renotubular syndrome 3.

**Synonyms:** - ECHD - Enoyl-CoA Hydratase and 3-Hydroxyacyl CoA Dehydrogenase wt Allele - Enoyl-CoA, Hydratase/3-Hydroxyacyl CoA Dehydrogenase Gene - Enoyl-Coenzyme A, Hydratase/3-Hydroxyacyl Coenzyme A Dehydrogenase Gene - FRTS3 - L-Bifunctional Protein, Peroxisomal Gene - L-PBE - LBFP - LBP - MFE1 - PBFE - Peroxisomal Enoyl-CoA Hydratase/3,2-Trans-Enoyl-CoA Isomerase/L-3-Hydroxyacyl-CoA Dehydrogenase Gene