Description
Product Characteristics: Function: Nicotinic acid adenine dinucleotide phosphate (NAADP) receptor that may function as one of the major voltage-gated Ca2+ channels (VDCC) across the lysosomal membrane. Involved in smooth muscle contraction. Subcellular location: Lysosome membrane, Multi-pass membrane protein. Note: Only the acidic lysosomal fraction is sensitive to NAADP Tissue specificity: Widely expressed.
Synonyms: Two pore calcium channel protein 2, Voltage-dependent calcium channel protein TPC2, TPCN2
Target Information: 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.[provided by RefSeq, Dec 2009]