ACSM1
Description
The ACSM1 (acyl-CoA synthetase medium chain family member 1) is a protein-coding gene located on chromosome 16.
ACSM1 plays a crucial role in the initial step of fatty acid metabolism by activating fatty acids with CoA to form acyl-CoA. This enzyme exhibits a preference for medium-chain fatty acids, ranging from butyric acid (C4) to decanoic acid (C10), and can also activate certain xenobiotics containing carboxylate groups, such as benzoate. Additionally, ACSM1 catalyzes the activation of lipoate to lipoyl-nucleoside monophosphate. Notably, it demonstrates a much higher activation rate of lipoate when using GTP compared to ATP. ACSM1 can activate both (R)- and (S)-lipoate to the corresponding lipoyl-GMP, with a slight preference for (R)-lipoate.
ACSM1 is also known as BUCS1, MACS1.
Associated Diseases
- linear and whorled nevoid hypermelanosis
- eosinophil peroxidase deficiency
- neutropenia, severe congenital, 1, autosomal dominant
- idiopathic hypereosinophilic syndrome
- ichthyosis prematurity syndrome
