DNA excision repair protein ERCC-8 isoform 4 [Homo sapiens]

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A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome. [Mol Biol Rep. 2024]
A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome.
Liu MW, Hu CF, Jin JY, Xiang R, Fan LL, Li YL, Zhu L. Mol Biol Rep. 2024 Feb 27; 51(1):371. Epub 2024 Feb 27.
Insufficient Dose of ERCC8 Protein Caused by a Frameshift Mutation Is Associated With Keratoconus With Congenital Cataracts. [Invest Ophthalmol Vis Sci. 2022]
Insufficient Dose of ERCC8 Protein Caused by a Frameshift Mutation Is Associated With Keratoconus With Congenital Cataracts.
Hao XD, Yao YZ, Xu KG, Dong B, Xu WH, Zhang JJ. Invest Ophthalmol Vis Sci. 2022 Dec 1; 63(13):1.
A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family. [Cells. 2022]
A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family.
Gauhar Z, Tejwani L, Abdullah U, Saeed S, Shafique S, Badshah M, Choi J, Dong W, Nelson-Williams C, Lifton RP, et al. Cells. 2022 Sep 30; 11(19). Epub 2022 Sep 30.

RefSeq genomic sequence
See the genomic reference sequence for the ERCC8 gene (NG_009289.1).
RefSeq mRNA
See reference mRNA sequence for the ERCC8 gene (NM_001290285.2).

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SNP
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