基因名:
ATP7B
产品别名:
PWD; WC1; WD; WND; ATP7B; ATPase copper transporting beta; ATPase copper transporting beta; copper-transporting ATPase 2; ATPase, Cu(2+)- transporting, beta polypeptide; ATPase, Cu++ transporting, beta polypeptide; Wilson disease-associated protein; copper pump 2; copper-transporting protein ATP7B; 铜离子转运ATP酶β肽(ATP7b); 铜转运蛋白质β链;
背景信息:
ATP7b is an important protein for copper transport and elimination of excess copper from the body. ATP7b transports metals in and out of cells using ATP. There are 3 known isoforms of the ATP7b gene; A is found in the liver, kidney, and brain, the shorter form B is found in brain tissue, and the third isoform, known as WND/140 KDA is found in mitochondria. Mutations in the ATP7b gene can cause Wilson's disease, an inherited disorder causing copper poisoning in the brain and liver.