XB-FEAT-975372: Difference between revisions
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=iqcb1= | =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 | 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] | |||
Latest revision as of 11:21, 17 May 2018
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]