This antibody is specific to RPGRIP1L.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: DKFZp686C0668; 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: CORS3; FTM; JBTS7; KIAA1005; MKS5; NPHP8; PPP1R134; RPGRIP1L
UniProt ID: (Human) Q68CZ1
Entrez Gene ID: (Human) 23322