Reactivities: | Human |
Presku: | AAP59790 |
Size: | 100ug |
Weight: | 51kDa |
Gene: | 9657 |
Format: | Lyophilized powder |
Target: | 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. |
Alternative names: | NPHP5; PIQ; SLSN5 |