Cockayne syndrome A protein (CSA)

Cockayne syndrome A protein (CSA) is encoded by the ERCC8 gene located on chromosome 5q12.1. The CSA protein is a DNA repair factor that functions as a substrate-recognition component of the DCX (DDB1-CUL4-X-box) E3 ubiquitin–protein ligase complex. Its main role is in transcription-coupled nucleotide excision repair (TC-NER), where it helps remove RNA polymerase II-blocking DNA lesions from actively transcribed genes. Mutations in the ERCC8 gene impair this DNA repair process, leading to Cockayne syndrome type A—a rare, fatal, autosomal recessive neurodegenerative disorder marked by growth failure, developmental delays, photosensitivity, and premature aging. ERCC8 mutations are not associated with increased cancer risk.

Other names

ERCC8CSACockayne syndrome A proteinCS-A

Not applicable for drug targeting, as this molecule is not currently a therapeutic target; its role is intrinsic in DNA repair