ECHDC1 Human

The ECHDC1 gene is located on chromosome 19 and encodes a protein that is primarily found in the cytosol . The protein contains a conserved domain characteristic of enoyl-CoA hydratases, which are enzymes involved in the hydration of enoyl-CoA to 3-hydroxyacyl-CoA during fatty acid metabolism .

ECHDC1 functions as a metabolite repair enzyme. It decarboxylates ethylmalonyl-CoA or methylmalonyl-CoA, which are by-products of acetyl-CoA carboxylase activity. This prevents these by-products from being used to synthesize branched-chain fatty acids, thus maintaining the efficiency of fatty acid metabolism .

The ECHDC1 protein contains a C-terminal peroxisomal targeting sequence, which allows it to localize to the peroxisome . This localization is essential for its role in the auxiliary step of the fatty acid beta-oxidation pathway. The protein is expressed in various tissues, with higher expression levels observed in metabolically active tissues .

Mutations in the ECHDC1 gene can lead to metabolic disorders. For instance, short-chain enoyl-CoA hydratase (SCEH) deficiency is a rare congenital metabolic disorder caused by biallelic mutations in the ECHS1 gene, which is closely related to ECHDC1 . Clinical manifestations of this deficiency include severe developmental delay, regression, dystonia, seizures, and elevated lactate levels .

Recombinant human ECHDC1 is used in research to study its role in fatty acid metabolism and its potential implications in metabolic disorders. Understanding the function and regulation of ECHDC1 can provide insights into the development of therapeutic strategies for metabolic diseases.