centrosomal protein of 290 kDa isoform X8 [Homo sapiens]

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Gene Editing for CEP290-Associated Retinal Degeneration. [N Engl J Med. 2024]
Gene Editing for CEP290-Associated Retinal Degeneration.
Pierce EA, Aleman TS, Jayasundera KT, Ashimatey BS, Kim K, Rashid A, Jaskolka MC, Myers RL, Lam BL, Bailey ST, et al. N Engl J Med. 2024 Jun 6; 390(21):1972-1984. Epub 2024 May 6.
Alternative splicing in CEP290 mutant cats results in a milder phenotype than LCA(CEP290) patients. [Vet Ophthalmol. 2023]
Alternative splicing in CEP290 mutant cats results in a milder phenotype than LCA(CEP290) patients.
Minella AL, Narfström Wiechel K, Petersen-Jones SM. Vet Ophthalmol. 2023 Jan; 26(1):4-11. Epub 2022 Dec 9.
Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene. [Am J Ophthalmol. 2023]
Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene.
Zhu T, Shen Y, Sun Z, Han X, Wei X, Li W, Lu C, Cheng T, Zou X, Li H, et al. Am J Ophthalmol. 2023 Apr; 248:96-106. Epub 2022 Dec 7.

RefSeq genomic sequence
See the genomic reference sequence for the CEP290 gene (NG_008417.2).
RefSeq mRNA
See reference mRNA sequence for the CEP290 gene (XM_017019982.2).
RefSeq protein isoforms
See 43 reference sequence protein isoforms for the CEP290 gene.

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Protein