靶标:
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; 铜转运蛋白质α链;
背景信息:
ATPase copper transporting alpha(ATP7A) Homo sapiens This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked distal spinal muscular atrophy, and occipital horn syndrome. Alternatively-spliced transcript variants have been observed. [provided by RefSeq, Aug 2013],