XB-FEAT-975372

iqcb1

This is the community wiki page for the gene iqcb1 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase

synonyms

PIQ; NPHP5; SLSN5

Summary from NCBI

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]