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RPGRIP1L

Official Full Name
RPGRIP1 like
Organism
Homo sapiens
GeneID
23322
Background
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]
Synonyms
FTM; MKS5; CORS3; JBTS7; NPHP8; COACH3; PPP1R134;

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