Aliases for IQCB1 Gene
External Ids for IQCB1 Gene
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. [provided by RefSeq, Nov 2009]
GeneCards Summary for IQCB1 Gene
IQCB1 (IQ Motif Containing B1) is a Protein Coding gene. Diseases associated with IQCB1 include senior-loken syndrome 5 and iqcb1-related leber congenital amaurosis. GO annotations related to this gene include calmodulin binding.
UniProtKB/Swiss-Prot for IQCB1 Gene
Involved in ciliogenesis.