靶标:
IQCB1
产品别名:
NPHP5; PIQ; SLSN5; IQCB1; IQ motif containing B1; IQ motif containing B1; IQ calmodulin-binding motif-containing protein 1; nephrocystin 5; p53 and DNA damage-regulated IQ motif protein; NPHP5蛋白;
背景信息:
This gene encodes a nephrocystin protein that interacts with calmodulin and the retinitis pigmentosa GTPase regulator protein. The encoded protein has a central coiled-coil region and two calmodulin-binding IQ domains. It is localized to the primary cilia of renal epithelial cells and connecting cilia of photoreceptor cells. The protein is thought to play a role in ciliary function. Defects in this gene result in Senior-Loken syndrome type 5. Alternative splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Jan 2016],