产品介绍 基因名: SLC17A1 产品别名: 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. 标签:His-tag |
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