Entrez gene ID | | 9657 |
Official gene symbol | | IQCB1 |
Full name | | IQ motif containing B1 |
Aliases | | ,NPHP5,PIQ,SLSN5, |
Gene summary | | 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] |
Location | | Chromosome: 3 Locus: 3q13.33|3q21.1 |
Gene position | | 121553926 - 121488610 Map Viewer |
Gene orientation | | minus |
Gene size | | 65317 bp |
Gene sequence |
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OMIM ID | | 609237 |
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