ERCC3 : ERCC excision repair 3, TFIIH core complex helicase subunit

Description

The ERCC3 (ERCC excision repair 3, TFIIH core complex helicase subunit) is a protein-coding gene located on chromosome 2.

The ERCC3 gene provides instructions for making the XPB protein, a crucial subunit of the TFIIH complex. TFIIH performs two key functions: gene transcription and DNA repair. In transcription, TFIIH regulates the activity of many genes, with XPB working alongside another TFIIH protein, XPD, to initiate transcription. For DNA repair, TFIIH plays a role in nucleotide excision repair (NER), where it unwinds damaged DNA sections, enabling other proteins to remove the damage and replace it with the correct DNA sequence. XPB likely acts as a wedge to keep the DNA strands open during this process.

ERCC3 encodes the XPB protein, a key component of the TFIIH complex, which is essential for both transcription and DNA repair. TFIIH's helicase activity, driven by XPB, is critical for unwinding DNA during transcription initiation and nucleotide excision repair (NER). In transcription, TFIIH facilitates promoter opening and escape, while in NER, it opens DNA around damaged sections for repair. The XPB protein's ATPase activity, but not its helicase activity, is required for DNA opening, suggesting it acts as a wedge to hold open the DNA strands. Additionally, the CAK module within TFIIH, which includes XPB, plays a role in regulating transcription by phosphorylating the RNA polymerase II CTD.

ERCC3 is also known as BTF2, GTF2H, RAD25, Ssl2, TFIIH, TTD2, XPB.

Associated Diseases

Comprehensive carrier screening

WES Whole Exome Sequencing

Clinical Exome Sequencing