XB-FEAT-5734278: Difference between revisions
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=cluap1= | =cluap1= | ||
This is the community wiki page for the gene ''cluap1'' 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 ''cluap1'' please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase | ||
=gene function= | |||
CLUAP1 is a relatively recently described member of the IFT complex, having been shown to be involved in ciliogenesis in mice, zebrafish, and the frog Xenopus (Pasek et al. 2012; Botilde et al. 2013; Lee et al. 2014). Recently, hypomorphic mutations were identified in human CLUAP1 associated with the retinal ciliopathy Leber congenital amaurosis (Soens et al. 2016) | |||
=summary from NCBI= | |||
The protein encoded by this gene contains a single coiled-coil region. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012] | |||
Also known as | |||
FAP22; IFT38; CFAP22 | |||
Latest revision as of 05:51, 26 October 2017
cluap1
This is the community wiki page for the gene cluap1 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase
gene function
CLUAP1 is a relatively recently described member of the IFT complex, having been shown to be involved in ciliogenesis in mice, zebrafish, and the frog Xenopus (Pasek et al. 2012; Botilde et al. 2013; Lee et al. 2014). Recently, hypomorphic mutations were identified in human CLUAP1 associated with the retinal ciliopathy Leber congenital amaurosis (Soens et al. 2016)
summary from NCBI
The protein encoded by this gene contains a single coiled-coil region. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012] Also known as FAP22; IFT38; CFAP22