Description
Product Characteristics: CORS 3 antibody, CORS3 antibody, Fantom antibody, FTM antibody, FTM_HUMAN antibody, JBTS 1 antibody, JBTS 7 antibody, JBTS1 antibody, JBTS7 antibody, Joubert syndrome 1 antibody, Joubert syndrome 7 antibody, Meckel syndrome, type 1 antibody, Meckel syndrome, type 5 antibody, MKS 5 antibody, MKS5 antibody, Nephrocystin-8 antibody, NPHP 8 antibody, NPHP8 antibody, Protein fantom antibody, Retinitis pigmentosa GTPase regulator interacting protein 1 like antibody, RPGR interacting protein 1 like protein antibody, RPGR-interacting protein 1-like protein antibody, RPGRIP1 like protein antibody, RPGRIP1-like protein antibody, Rpgrip1l antibody
Target Information: 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]