RPGRIP1L
| RPGRIP1-like | |||||||
|---|---|---|---|---|---|---|---|
| Identifiers | |||||||
| Symbol | RPGRIP1L | ||||||
| Alt. symbols | NPHP8, KIAA1005, CORS3, JBTS7, MKS5, FTM | ||||||
| NCBI gene | 23322 | ||||||
| HGNC | 29168 | ||||||
| OMIM | 610937 | ||||||
| RefSeq | NM_015272 | ||||||
| UniProt | Q68CZ1 | ||||||
| Other data | |||||||
| Locus | Chr. 16 q12.2 | ||||||
| |||||||
Function
The protein encoded by this gene is localized to primary cilia and centrosomes in ciliated human epithelial kidney cells. RPGRIP1L colocalized at the basal body-centrosome complex with the proteins NPHP4, NPHP6, and TUBG1.[2][3]
Clinical significance
Mutations in the RPGRIP1L gene are associated with Joubert syndrome and Meckel syndrome which belong to a group of developmental autosomal recessive disorders that are associated with cilium dysfunction.[2] Mutations in this gene are also associated with nephronophthisis.[4] Copy number variation affecting the gene was associated with schizophrenia in one study.[5]
References
- ^ Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (February 1999). "Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 6 (1): 63–70. doi:10.1093/dnares/6.1.63. PMID 10231032.
- ^ a b Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, Golzio C, Lacoste T, Besse L, Ozilou C, Moutkine I, Hellman NE, Anselme I, Silbermann F, Vesque C, Gerhardt C, Rattenberry E, Wolf MT, Gubler MC, Martinovic J, Encha-Razavi F, Boddaert N, Gonzales M, Macher MA, Nivet H, Champion G, Berthélémé JP, Niaudet P, McDonald F, Hildebrandt F, Johnson CA, Vekemans M, Antignac C, Rüther U, Schneider-Maunoury S, Attié-Bitach T, Saunier S (July 2007). "The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome". Nature Genetics. 39 (7): 875–81. doi:10.1038/ng2039. PMID 17558409.
- ^ Arts HH, Doherty D, van Beersum SE, Parisi MA, Letteboer SJ, Gorden NT, Peters TA, Märker T, Voesenek K, Kartono A, Ozyurek H, Farin FM, Kroes HY, Wolfrum U, Brunner HG, Cremers FP, Glass IA, Knoers NV, Roepman R (July 2007). "Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome". Nature Genetics. 39 (7): 882–8. doi:10.1038/ng2069. PMID 17558407.
- ^ Devuyst O, Arnould VJ (May 2008). "Mutations in RPGRIP1L: extending the clinical spectrum of ciliopathies". Nephrol. Dial. Transplant. 23 (5): 1500–3. doi:10.1093/ndt/gfn033. PMID 18281315.
- ^ Gene Overview of All Published Schizophrenia-Association Studies for RPGRIP1L - SzGene database at Schizophrenia Research Forum.
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