HAP1 knockout cell lines

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HAP1 Parental Cell Lines available

IQCB1 ( Human )

Entrez Gene 9657 entrezgene 9657
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IQ motif containing B1

Alias

NPHP5 | PIQ | SLSN5

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].