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 and Meckel syndrome type 5. Two transcript variants encoding different isoforms have been found for this gene.
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Protein Aliases: DKFZp686C0668; fantom; fantom homolog; Nephrocystin-8; Protein fantom; protein phosphatase 1, regulatory subunit 134; RPGR-interacting protein 1-like protein; RPGRIP1-like; RPGRIP1-like protein
Gene Aliases: 1700047E16Rik; 4931437C01; CORS3; FTM; JBTS7; KIAA1005; MKS5; NPHP8; PPP1R134; RGD1311099; RPGRIP1L