Alternative names for RPGRIP1L antibody
Protein fantom, FTM, KIAA1005, RPGRIP1-like protein, RPGR-interacting protein 1-like protein
Enzyme Immunoassay (E), Western blot / Immunoblot (WB), Immunocytochemistry/Immunofluorescence (ICC/IF), Immunoprecipitation (IP), Paraffin Sections (P)
Background of RPGRIP1L antibody
The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq].
Arts HH, Doherty D, van Beersum SE, Parisi MA, Letteboer SJ, Gorden NT, Peters TA, Marker T, Voesenek K, Kartono A, Ozyurek H, Farin FM, Kroes HY, Wolfrum U, Brunner HG, Cremers FP, Glass IA, Knoers NV, Roepman R.
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
Nat Genet. 2007 Jul;39(7):882-8. Epub 2007 Jun 10.