靶标:
CLCN5
产品别名:
CLC5; CLCK2; ClC-5; DENT1; DENTS; NPHL1; NPHL2; XLRH; XRN; hCIC-K2; CLCN5; chloride voltage-gated channel 5; chloride voltage-gated channel 5; H(+)/Cl(-) exchange transporter 5; chloride channel, voltage-sensitive 5; chloride transporter ClC-5; voltage-gated chloride ion channel CLCN5; 氯离子通道蛋白5;
背景信息:
chloride voltage-gated channel 5(CLCN5) Homo sapiens This gene encodes a member of the ClC family of chloride ion channels and ion transporters. The encoded protein is primarily localized to endosomal membranes and may function to facilitate albumin uptake by the renal proximal tubule. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013],