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Beschreibung

Centrosomal protein of 290 kDa (UniProt: Q6A078, also known as Cep290, Bardet-Biedl syndrome 14 protein homolog, Nephrocystin-6) is encoded by the Cep290 (also known as Kiaa0373, Nphp6) gene (Gene ID: 216274) in murine species. Cep290 is a centrosomal protein that is expressed in multiple organs during early postnatal development, with highest levels in the hindbrain region. Cep290 has 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif. Cep290 is part of the tectonic-like complex, which is required for tissue-specific ciliogenesis and may also regulate ciliary membrane composition. It is also required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells. Defects in Cep290 gene are known to cause Leber congenital amaurosis (LCA), an early-onset retinal degenerative disease. Mutations in Cep290 gene are also known to cause Joubert syndrome that is characterized by psychomotor delay, hypotonia, ataxia, oculomotor apraxia and neonatal breathing abnormalities.