centrosomal protein of 78 kDa isoform d [Homo sapiens]

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A novel frameshift variant in CEP78 associated with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes. [Ophthalmic Genet. 2022]
A novel frameshift variant in CEP78 associated with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes.
Lähteenoja L, Häkli S, Tuupanen S, Kuismin O, Palosaari T, Rahikkala E, Falck A. Ophthalmic Genet. 2022 Apr; 43(2):152-158. Epub 2022 Mar 3.
Centrosome Protein 78 Is Overexpressed in Muscle-Invasive Bladder Cancer and Is Associated with Tumor Molecular Subtypes and Mutation Signatures. [Med Sci Monit. 2020]
Centrosome Protein 78 Is Overexpressed in Muscle-Invasive Bladder Cancer and Is Associated with Tumor Molecular Subtypes and Mutation Signatures.
Huang X, Yan Y, Wei R, Liu H, Zhu X, Bi D, Wei Q, Yao X. Med Sci Monit. 2020 Oct 29; 26:e925197. Epub 2020 Oct 29.
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility. [Hum Mutat. 2020]
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.
Ascari G, Peelman F, Farinelli P, Rosseel T, Lambrechts N, Wunderlich KA, Wagner M, Nikopoulos K, Martens P, Balikova I, et al. Hum Mutat. 2020 May; 41(5):998-1011. Epub 2020 Feb 12.

RefSeq genomic sequence
See the genomic reference sequence for the CEP78 gene (NG_053171.1).
RefSeq mRNA
See reference mRNA sequence for the CEP78 gene (NM_001330693.3).

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Protein