Gene Symbol | IQCB1 |
Entrez Gene ID | 9657 |
Full Name | IQ motif containing B1 |
Synonyms | NPHP5,PIQ,SLSN5 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Jan 2016]. |
Disorder MIM: | |
Disorder Html: | Senior-Loken syndrome 5, 609254 (3) |