ECHDC1
Description
The ECHDC1 (ethylmalonyl-CoA decarboxylase 1) is a protein-coding gene located on chromosome 6.
ECHDC1 is involved in the decarboxylation of ethylmalonyl-CoA, a potentially toxic metabolite, to form butyryl-CoA. This suggests a role in metabolite proofreading. ECHDC1 preferentially acts on (S)-ethylmalonyl-CoA but also exhibits some activity on the (R)-isomer. Additionally, it displays lower levels of methylmalonyl-CoA decarboxylase activity.
ECHDC1 is also known as HEL-S-76, MMCD, dJ351K20.2.
Associated Diseases
- short chain acyl-CoA dehydrogenase deficiency
- hypertriglyceridemia 2
- cholesterol-ester transfer protein deficiency
- hyperlipidemia due to hepatic triglyceride lipase deficiency
