基因名:
ATP7A
产品别名:
DSMAX; MK; MNK; SMAX3; ATP7A; ATPase copper transporting alpha; ATPase copper transporting alpha; copper-transporting ATPase 1; ATPase, Cu++ transporting, alpha polypeptide; Cu++-transporting P-type ATPase; Menkes disease-associated protein; copper pump 1; 铜离子转运ATP酶α肽(ATP7a); 铜转运蛋白质α链;
背景信息:
Copper-transporting ATPase 1 is an integral membrane protein cycling constitutively between the trans-golgi network and the plasma membrane. It may supply copper to copper-requiring proteins within the secretory pathway, when localized in the trans-golgi network. Under conditions of elevated extracellular copper, it relocalized to the plasma membrane where it functions in the efflux of copper from cells. Defects in ATP7A are the cause of Menkes syndrome; also known as kinky hair disease, an X-linked recessive disorder.