Ethylmalonyl-CoA decarboxylase (ECHDC1)

Ethylmalonyl-CoA decarboxylase (ECHDC1) is a cytosolic enzyme that catalyzes the decarboxylation of (S)-ethylmalonyl-CoA to butyryl-CoA and CO₂, and to a lesser extent converts methylmalonyl-CoA to propionyl-CoA[2][3][4][6]. ECHDC1 plays a specialized role in metabolite proofreading, which removes non-physiological and potentially toxic byproducts generated by the side activity of major lipid metabolism enzymes such as acetyl-CoA and propionyl-CoA carboxylases[3][2][6]. Loss or deficiency of ECHDC1 can result in an accumulation of ethylmalonic acid, a phenotype associated with ethylmalonic aciduria, particularly when combined with known ACADS mutations[1][3]. The protein is most abundant in brown adipose tissue, liver, and kidney in mice, and is essentially cytosolic[3]. ECHDC1 belongs to the enoyl-CoA hydratase/isomerase family but displays high substrate specificity for ethylmalonyl-CoA, and lacks significant hydratase or thioesterase activity[2][3][4]. Currently, there are no known small-molecule drugs that directly target ECHDC1 for therapeutic purposes.

Other names

Enoyl-CoA hydratase domain-containing protein 1Methylmalonyl-CoA decarboxylaseMMCDdJ351K20.2Enoyl CoA hydratase domain containing 1Enoyl Coenzyme A hydratase domain containing 1Epididymis secretory protein Li 76HEL-S-76