CSB/ERCC6 Proteins and Enzymes

ERCC6, also known as Cockayne syndrome B protein, is involved in DNA repair in response to UV exposure. ERCC6 has been reported to display ATPase and helicase activity and functions as a transcriptional regulator. Mutations in ERCC6 are the cause of Cockayne syndrome type B (CSB), cerebro-oculo-facio-skeletal syndrome type 1 (COFS1), De Sanctis-Cacchione syndrome (DCS), age-related macular degeneration type 5 (ARMD5), and UV-sensitive syndrome (UVS).