ERCC4

Description

The ERCC4 gene, also known as XPF, encodes a protein that plays a pivotal role in nucleotide excision repair (NER), a major DNA repair pathway responsible for removing damaged or distorted DNA segments. This protein forms a complex with ERCC1, a key component in NER, and together they act as a structure-specific endonuclease, cleaving the damaged DNA strand to allow for its removal and subsequent repair. The ERCC4 gene is located on chromosome 16q22.1 and is crucial for maintaining genomic stability and preventing the accumulation of mutations that can lead to various diseases.

Associated Diseases

• Xeroderma pigmentosum (XP)
• Cockayne syndrome (CS)
• Trichothiodystrophy (TTD)
• Fanconi anemia (FA)
• Cancer predisposition (e.g., breast cancer, lung cancer)

Did you know?

Mutations in the ERCC4 gene can lead to a rare genetic disorder called Xeroderma pigmentosum (XP), which is characterized by extreme sensitivity to sunlight, increased risk of skin cancer, and other developmental defects.