半岛bd体育手机客户端 介绍
基因名：
SLC17A1 半岛bd体育手机客户端 别名： NAPI-1； NPT-1； NPT1； SLC17A1； solute carrier family 17 member 1； solute carrier family 17 member 1； sodium-dependent phosphate transport protein 1； Na(+)/PI cotransporter 1； na/Pi-4； renal Na(+)-dependent phosphate cotransporter 1； renal sodium-dependent phosphate transport protein 1； renal sodium-phosphate transport protein 1； sodium phosphate transporter； sodium/phosphate cotransporter 1； sodium/phosphate type I cotransporter； solute carrier family 17 (organic anion transporter), member 1； solute carrier family 17 (sodium phosphate), member 1； solute carrier family 17 (vesicular glutamate transporter), member 1； 溶质载体家族蛋白17成员A1； 钠/磷酸转运蛋白1； 背景信息：
MFSD8 is a 518 amino acid multi-pass membrane protein of the lysosome that is thought to function as a carrier protein that transports small solutes by way of chemiosmotic ion gradients. Expressed at low levels in many tissues, MFSD8 is encoded by a gene that maps to human chromosome 4q28.1. Defects in the gene encoding MFSD8 are the cause of a late infantile neuronal ceroid lipofuscinosis known as neuronal ceroid lipofuscinosis type 7 (CLN7). CLN7 is characterized by seizures, progressive dementia and visual failure.
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