HomeGeneticsGeneERCC6 gene
Back to Gene
ERCC6 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

ERCC6 gene

The ERCC6 gene provides instructions for making the CSB protein, which is vital for repairing damaged DNA within active genes.

Normal Function

The ERCC6 gene provides instructions for making a protein called Cockayne syndrome B (CSB). This protein is involved in repairing damaged DNA and assists with gene transcription. When DNA in active genes is damaged by UV rays, toxic chemicals, or free radicals, the enzyme responsible for transcription (RNA polymerase) gets stuck. The CSB protein helps remove this enzyme so the DNA can be repaired and transcription can restart.

Health Conditions Related to Genetic Changes

Cockayne syndrome

More than 60 ERCC6 gene mutations have been identified that cause Cockayne syndrome. This condition is characterized by microcephaly (abnormally small head size), very slow growth, delayed development, and photosensitivity. These mutations lead to a malfunctioning or abnormally short CSB protein, which hinders DNA repair and disrupts gene transcription, eventually leading to cell death in many organs and tissues.

UV-sensitive syndrome

At least one mutation in the ERCC6 gene (Arg77Ter) can cause UV-sensitive syndrome. This condition is characterized by unusual sensitivity to UV rays, resulting in easy sunburn and changes in skin pigmentation. Without the CSB protein, skin cells cannot effectively repair UV-induced DNA damage, though it is unclear why this specific mutation causes photosensitivity without the other features of Cockayne syndrome.

Age-related macular degeneration

The ERCC6 gene has also been associated with age-related macular degeneration.

Other Names for This Gene

  • ARMD5
  • CKN2
  • COFS
  • CSB
  • ERCC6_HUMAN
  • excision repair cross-complementation group 6
  • RAD26
  • Rad26 (yeast) homolog

Frequently Asked Questions

They should use broad‑spectrum sunscreen with an SPF of 30 or higher, reapply every two hours, and wear protective clothing, wide‑brimmed hats, and UV‑blocking sunglasses. Limiting sun exposure during peak hours (10 a.m. to 4 p.m.) and seeking shade can also help. Some patients benefit from wearing UV‑blocking clothing or using physical barriers like umbrellas. Regular skin checks by a dermatologist are advised to catch early changes.
Currently, no disease‑modifying treatments are approved specifically for Cockayne syndrome. Research is exploring antioxidants, small molecules that enhance transcription-coupled repair, and gene‑replacement strategies, but these are still experimental. Supportive care—such as physical therapy, nutritional support, and management of complications—remains the mainstay of treatment. Patients should discuss participation in clinical trials with their healthcare team.
definitive diagnosis typically involves sequencing the ERCC6 gene to identify pathogenic variants. Whole‑exome sequencing or targeted gene panels that include ERCC6 are commonly used. In some cases, functional assays such as measuring the cell’s ability to repair UV‑induced DNA damage (e.g., unscheduled DNA synthesis or transcription recovery assays) can support the genetic findings. The results are interpreted by a clinical geneticist in the context of the patient’s clinical features.
Certain ERCC6 variants have been linked to an increased risk of age‑related macular degeneration (AMD). Patients with ERCC6 mutations should have baseline ophthalmologic evaluations, including dilated fundus exams and optical coherence tomography (OCT). Regular follow‑ups every 12–18 months can help detect early retinal changes. Early intervention with anti‑VEGF therapy or lifestyle modifications (smoking cessation, omega‑3 intake) may reduce progression if AMD develops.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

kontakt@hittavard.se

Ⓒ 2024. Alla rättigheter förbehålls av juxt ab

Sök
Om ossVillkor och policyVanliga frågorKontakta oss