靶标:
TPCN2
产品别名:
SHEP10; TPC2; TPCN2; two pore segment channel 2; two pore segment channel 2; two pore channel protein 2; two pore calcium channel protein 2; voltage-dependent calcium channel protein TPC2;
背景信息:
This gene encodes a putative cation-selective ion channel with two repeats of a six-transmembrane-domain. The protein localizes to lysosomal membranes and enables nicotinic acid adenine dinucleotide phosphate (NAADP) -induced calcium ion release from lysosome-related stores. This ubiquitously expressed gene has elevated expression in liver and kidney. Two common nonsynonymous SNPs in this gene strongly associate with blond versus brown hair pigmentation.