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iqcb1

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Official Full Name
IQ motif containing B1
Background
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.
Synonyms
IQCB1; IQ motif containing B1; IQ calmodulin binding motif containing 1; IQ calmodulin-binding motif-containing protein 1; KIAA0036; nephrocystin 5; NPHP5; IQ calmodulin binding motif containing protein 1; IQ calmodulin-binding motif containing 1; p53 and DNA damage-regulated IQ motif protein; PIQ; SLSN5; zgc:101792

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