RPGRIP1L( Human )
RPGRIP1 like
Alias
CORS3|FTM|JBTS7|MKS5|NPHP8|PPP1R134
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). [provided by RefSeq, Jun 2016].