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, Jul 2008]
Function
protein binding; thromboxane A2 receptor binding;
Synonyms
RPGRIP1L; RPGRIP1-like; protein fantom; CORS3; fantom homolog; FTM; JBTS7; KIAA1005; Meckel syndrome; type 5; MKS5; NPHP8; nephrocystin 8; nephrocystin-8; RPGRIP1-like protein; RPGR-interacting protein 1-like protein; DKFZp686C0668;
Citations
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