Nephrocystin 5
The gene NPHP5 encodes a nephrocystin protein that is involved in ciliary function of renal epithelial cells. Loss of function mutations result in Nephronophthisis type 5.
Genetests:
Related Diseases:
References:
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Nomura N et al. (1994) Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1.
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Otto EA et al. (2005) Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.
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Stone EM et al. (2011) Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.
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Luo X et al. (2005) Cloning and characterization of a p53 and DNA damage down-regulated gene PIQ that codes for a novel calmodulin-binding IQ motif protein and is up-regulated in gastrointestinal cancers.
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Schäfer T et al. (2008) Genetic and physical interaction between the NPHP5 and NPHP6 gene products.
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OMIM.ORG article
Omim 609237
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Orphanet article
Orphanet ID 122670
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8. |
NCBI article
NCBI 9657
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9. |
Wikipedia article
Wikipedia EN (IQCB1)
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Update: Aug. 14, 2020