ERCC5

Description

ERCC5, also known as Xeroderma pigmentosum group C (XPC), is a crucial gene involved in the nucleotide excision repair (NER) pathway. This pathway is responsible for removing damaged DNA segments caused by ultraviolet (UV) radiation, chemicals, and other environmental factors. ERCC5 plays a vital role in recognizing and binding to damaged DNA, initiating the NER process. Mutations in the ERCC5 gene can lead to various health complications, including increased cancer risk and developmental abnormalities.

Associated Diseases

• Xeroderma pigmentosum (XP)
• Cockayne syndrome (CS)
• Trichothiodystrophy (TTD)
• Cancer (various types)
• Neurodevelopmental disorders

Did you know?

Individuals with mutations in the ERCC5 gene are extremely sensitive to sunlight and are at a significantly higher risk of developing skin cancer.