Ask about this productRelated genes to: ERCC8 antibody
- Gene:
- ERCC8 NIH gene
- Name:
- ERCC excision repair 8, CSA ubiquitin ligase complex subunit
- Previous symbol:
- CKN1
- Synonyms:
- CSA
- Chromosome:
- 5q12.1
- Locus Type:
- gene with protein product
- Date approved:
- 1995-02-07
- Date modifiied:
- 2019-04-23
Related products to: ERCC8 antibody
Related articles to: ERCC8 antibody
- Cockayne syndrome is an ultra-rare (1:2.5 million) hereditary disease from the group of progeroid syndromes caused by pathogenic and probable-pathogenic variants in DNA repair genes (ERCC8, ERCC6, XPB (ERCC3), XPD (ERCC2) and XPG (ERCC5)) and characterized by abnormal photosensitivity, congenital cataract, microcephaly, sensorineural hearing loss, nervous system pathology and other multisystem changes. In this manuscript, for the first time in the Russian Federation, we present the results of a clinical and genetic study and follow-up of a Russian cohort of patients. - Source: PubMed
Publication date: 2026/03/07
Kungurtseva A LPopovich A VTikhonovich Yu VIvannikova T EKovalskaia V AVasiliev P AVitebskaya A V - /: Melanoma is the deadliest form of skin cancer. Resistance to alkylating agents such as Temozolomide (TMZ) and Dacarbazine (DTIC) limits their clinical benefit, as these drugs remain palliative options when immunotherapies and targeted treatments fail. CSA/ERCC8 is a key component of transcription-coupled nucleotide excision repair (TC-NER), a pathway responsible for removing UV-induced DNA lesions. In principle, loss of a DNA repair factor would be expected to increase carcinogenesis. However, although CSA loss-of-function causes Cockayne Syndrome (CS), affected patients do not exhibit increased skin cancer incidence, suggesting that CSA impairment promotes apoptosis rather than tumor development. This paradox raises the possibility that CSA inhibition may selectively target melanoma cell survival pathways. : The expression of CSA/ERCC8 was analyzed by qRT-PCR and Western blot. ERCC8 was silenced using antisense oligonucleotides. Cell viability, apoptosis, cell cycle progression, drug sensitivity, and DNA damage were assessed by functional assays, including IC50 determination and Bliss analysis for drug interactions. : We identified CSA/ERCC8 as a driver of melanoma chemoresistance. CSA was markedly overexpressed in primary and metastatic melanoma cells. ERCC8 silencing reduced proliferation, induced apoptosis, and significantly enhanced sensitivity to low doses of TMZ and DTIC while sparing normal cells. : CSA represents a promising therapeutic target to overcome chemoresistance in melanoma. Its inhibition enhances the efficacy and selectivity of alkylating agents, supporting its potential as a salvage strategy for refractory disease and warranting further preclinical and clinical investigation. - Source: PubMed
Publication date: 2026/02/17
Filippi SilviaValeri EmmaBartolocci ValeriaPaccosi ElenaGuzzon DilettaProietti-De-Santis Luca - Cockayne syndrome (CS) is a rare, autosomal-recessive, multisystem disorder characterized by microcephaly, failure to thrive, photosensitivity, leukodystrophy, muscle contracture, and intellectual disability. It is caused by deleterious variant in the and genes, which are involved in the transcription-coupled nucleotide excision repair system. According to severity and age of onset, CS is categorized into four types: I, II, III, and cerebrooculofacioskeletal syndrome (COFS). However, some researchers consider COFS to be a distinct disease from CS, while others describe COFS as a severe form of CS. - Source: PubMed
Publication date: 2025/12/25
Khorrami MehdiKhorram ErfanTabatabaiefar Mohammad AminYaghini OmidIravani OmidKheirollahi AidaKheirollahi MajidYazdani VidaPakbaz Mitra - Cockayne Syndrome (CS) is a rare autosomal recessive genetic disease, mainly caused by ERCC8 and ERCC6 gene defect. However, many of its molecular characteristics remain unclear. In this study, molecular genetic analysis was performed on a patient to clarify her genetic etiology. - Source: PubMed
Publication date: 2025/11/26
Bie XiaofanLiu LeiLiu LingzhiZhang ZhenkunGuo MingweiXie ZhenhuaZhang YaodongSu JunLi Dongxiao - Cockayne syndrome (CS), a rare hereditary neurodegenerative disorder caused by pathogenic variants in (CSB) and (CSA), often clinically overlaps with cerebral palsy (CP), leading to misdiagnosis. This study evaluates the role of genetic testing in differential diagnosis, examines hepatic dysfunction as a biomarker of disease severity, and delineates clinical characteristics of CSA-related CS. - Source: PubMed
Publication date: 2025/08/06
Chen JingSu WeiGao DanLiu FangfangChen ShuangZhang WenhanPeng MinLei TaoZhu Hongmin