基因名:
ACSM3
产品别名:
SA; SAH; ACSM3; acyl-CoA synthetase medium chain family member 3; acyl-CoA synthetase medium chain family member 3; acyl-coenzyme A synthetase ACSM3, mitochondrial; SA (rat hypertension-associated) homolog; SA hypertension-associated homolog; butyrate--CoA ligase 3; butyryl-coenzyme A synthetase 3; middle-chain acyl-CoA synthetase 3; propionate--CoA ligase; protein SA homolog; 丁酰基辅酶A合成酶3; 酰基辅酶A合成酶中链家族成员3(ACSM3);
背景信息:
ACSM3 is a 586 amino acid protein has a broad substrate specificity and utilizes magnesium as a cofactor. The gene encoding ACSM3 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.