GENE REFERENCE / HGNC:3435
ERCC3
ERCC excision repair 3, TFIIH core complex helicase subunit
What does this gene do?
The ERCC3 gene provides instructions for making a protein called XPB. This protein is an essential part (subunit) of a group of proteins known as the general transcription factor 2 H (TFIIH) complex. The TFIIH complex has two major functions: it is involved in a process called gene transcription, and it helps repair damaged DNA.
Gene transcription is the first step in protein production. By controlling gene transcription, the TFIIH complex helps regulate the activity of many different genes. Studies suggest that the XPB protein works together with XPD, another protein in the TFIIH complex that is produced from the ERCC2 gene, to start (initiate) gene transcription.
The TFIIH complex also plays an important role in repairing damaged DNA. DNA can be damaged by ultraviolet (UV) rays from sunlight and by toxic chemicals, such as those found in cigarette smoke. DNA damage occurs frequently, but normal cells are usually able to fix it before it can cause problems.
One of the major mechanisms that cells use to fix DNA is known as nucleotide excision repair (NER). As part of this repair mechanism, the TFIIH complex unwinds the section of double-stranded DNA that surrounds the damage. Studies suggest that the XPB protein may act as a wedge, holding open the two strands of DNA so other proteins can snip out (excise) the abnormal section and replace the damaged area with the correct DNA.
Related condition topics
MedlinePlus mentions this gene in the condition pages below. These links alone do not show that the gene causes a condition.
ClinGen reviews
ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.
| Condition | Inheritance | Evidence |
|---|---|---|
| xeroderma pigmentosum group BMONDO:0012531 · Evaluated 2019-04-19 | Autosomal recessive | DefinitiveHereditary Cancer Gene Curation Expert Panel |
ClinVar records
These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.
- Submitted alleles
- 731
- Submissions for variants in or overlapping this gene
- 1,148
- Submissions explicitly reporting this gene
- 1,099
- Alleles reported pathogenic / likely pathogenic
- 69
- VariationIDs with uncertain significance
- 285
- VariationIDs with conflicting classifications
- 33
The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.
NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗
YOUR DNA FILE
Can your DNA file tell you about ERCC3?
From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 69 alleles in ERCC3 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.
From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.
If a variant is not in your file, that does not mean you don’t have it.
What BioDecode checks
BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.
A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in ERCC3.
BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.
Sources and dates
The source information on this page last changed on 2026-10-24.
HGNC Source details
Source release: Fri, 16 Oct 2026 13:36:12 GMT
Source record updated: 2023-01-20
SHA-256: 72bfe0c05800163c040a2cf663c70501f9ac9236469fbd0b552f2cd37a4d7f67
MedlinePlus Source details
Source release: Sat, 24 Oct 2026 05:15:45 GMT
Source publication: 2023-04-06
Source review: 2023-04
SHA-256: fdc8bd614310c12718379cef6569962e5d0e791cecabcc355b53a72816ac263a
ClinVar Source details
Source release: Mon, 19 Oct 2026 03:41:17 GMT
SHA-256: 9a8c00a7987db98812ad59025733fd9d491e66316267e09a482adcb8cce1d14e
ClinGen Source details
Source release: Sat, 24 Oct 2026 08:06:31 GMT
SHA-256: 80a5e6a08b5ae87f6bad38cb2df1564fae7e038c575918f122170235748c85a4
About the library sources · Latest validated release · Record a0ae47ea1fd0