protein
| retinitis pigmentosa GTPase regulator, RPGR |
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activating transcription factor 4, ATF4 |
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CP110 protein |
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nephrocystin-5, NPHP5 |
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pericentriolar material 1, PCM1 |
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coiled-coil and C2 domain containing 2A, CC2D2A |
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CEP290 and CP110 interact with RAB8A, a small GTPase required for cilia assembly |
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interacting with PEBP1, and mutation in CEP290 may completely abolish its interaction and subsequently result in relatively higher levels of PEBP1 and subsequent mislocalization of key signaling proteins in other tissues |
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McKusick-Kaufman syndrome, MKKS |
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CEP72 is a PCM1-interacting protein required for recruitment of the ciliopathy-associated protein CEP290 to centriolar satellites |
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CEP131 is recruited to centriolar satellites by PCM1, and localised to the centriolar core region by both pericentrin and CEP290 |
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direct interaction of FAM161A with lebercilin (LCA5), CEP290, OFD1 and SDCCAG8, all involved in hereditary retinal degeneration |
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genetic interactions between BBSome components and CEP290 could underlie the variable expression and overlapping phenotypes of ciliopathies caused by CEP290 mutations |
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importance of SSX2IP for efficient recruitment of the ciliopathy-associated satellite protein CEP290 to both satellites and the basal body |
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KIAA0586 is required for centriolar satellite dispersal, which precedes the formation of mature ciliary vesicles, a process requiring CEP290 |
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CCDC13 is a newly identified centriolar satellite protein that interacts with PCM1, CEP290 and pericentrin and prevents the accumulation of DNA damage during mitotic transit |
| rd16 mouse, mutated in Cep290, exhibits early-onset retinal degeneration with autosomal recessive inheritance with considerable deterioration of rod and cone functions | |
Abyssinian cats with Cep290 intronic mutations Shows an autosomal recessive form of retinal degeneration closely resembling human retinitis pigmentosa |
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Knockdown of zebrafish NPHP6 leads to to severe early embryonic developmental defects prior to gastrulation. Embryos are unable to perform epiboly and never reached the gastrulation stage and display defective eye development associated with abnormal structuring of the early brain compartments |
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zebrafish embryos, combined subminimal knockdown of mkks and cep290 produced sensory defects in the eye and inner ear |