Acyl Coenzyme A Synthetase Medium Chain Family, Member 5 (ACSM5)

The acyl-CoA synthetase medium-chain (ACSM) family is comprised of ACSM1, ACSM2A, ACSM2B, ACSM3, ACSM4 and ACSM5, which encode for enzymes catalyzing the activation of medium-chain length fatty acids. ACSM5 is a 579 amino acid protein has a broad substrate specificity and utilizes magnesium or manganese as a cofactor. ACSM5 is expressed in kidney and liver. The gene encoding ACSM5 maps to human chromosome 16, which encodes over 900 genes and comprises nearly 3% of the human genome. The GAN gene is located on chromosome 16 and, with mutation, may lead to giant axonal neuropathy, a nervous system disorder characterized by increasing malfunction with growth. The rare disorder Rubinstein- Taybi syndrome is also associated with chromosome 16, as is Crohn’s disease, which is a gastrointestinal inflammatory condition.