Gene Symbol | RPGRIP1L |
Entrez Gene ID | 23322 |
Full Name | RPGRIP1 like |
Synonyms | CORS3,FTM,JBTS7,MKS5,NPHP8,PPP1R134 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Joubert syndrome 7, 611560 (3); Meckel syndrome 5, 611561 (3); COACH syndrome, 216360 (3) |