Anti-RPGRIP1L Antibody Picoband® Fluoro488 Conjugated

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) .

1. Arts, H. H., Doherty, D., van Beersum, S. E. C., Parisi, M. A., Letteboer, S. J. F., Gorden, N. T., Peters, T. A., Marker, T., Voesenek, K., Kartono, A., Ozyurek, H., Farin, F. M., Kroes, H. Y., Wolfrum, U., Brunner, H. G., Cremers, F. P. M., Glass, I. A., Knoers, N. V. A. M., Roepman, R. Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nature Genet. 39: 882-888, 2007. 2. Brancati, F., Travaglini, L., Zablocka, D., Boltshauser, E., Accorsi, P., Montagna, G., Silhavy, J. L., Barrano, G., Bertini, E., Emma, F., Rigoli, L., the International JSRD Study Group, Dallapiccola, B., Gleeson, J. G., Valente, E. M. RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. Clin. Genet. 74: 164-170, 2008. 3. Delous, M., Baala, L., Salomon, R., Laclef, C., Vierkotten, J., Tory, K., Golzio, C., Lacoste, T., Besse, L., Ozilou, C., Moutkine, I., Hellman, N. E., and 25 others. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nature Genet. 39: 875-881, 2007.