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UVSSA gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

UVSSA gene

The UVSSA gene provides instructions for a protein essential for repairing DNA damage caused by ultraviolet (UV) radiation.

Normal Function

The UVSSA gene provides instructions for making a protein involved in repairing DNA damaged by ultraviolet (UV) rays from the sun. This damage can block gene transcription, a vital step in protein production. If left uncorrected, DNA damage accumulates, leading to cell malfunction or death.

The UVSSA protein functions within a mechanism that repairs damaged DNA in active genes. When the enzyme responsible for transcription (RNA polymerase) gets stuck at a site of DNA damage, the UVSSA protein helps remove the enzyme so repairs can occur. A key part of this process involves ensuring that another protein, CSB, is not broken down by UV exposure.

Health Conditions Related to Genetic Changes

UV-sensitive syndrome

Mutations in the UVSSA gene cause UV-sensitive syndrome, a disorder characterized by extreme sun sensitivity. Individuals with this condition sunburn easily and may exhibit freckled skin or other pigmentation changes.

  • Mechanism: Identified mutations eliminate the production of the UVSSA protein. Without it, skin cells cannot repair UV-induced DNA damage, and transcription of damaged genes remains blocked.

Other Names for This Gene

  • KIAA1530
  • UV-stimulated scaffold protein A
  • UVSS3
  • UVSSA_HUMAN

Frequently Asked Questions

UV‑sensitive syndrome follows an autosomal‑recessive pattern; both parents must carry one copy of the mutated gene for a child to be affected, while carriers are typically asymptomatic.
Rigorous protection includes daily broad‑spectrum sunscreen (SPF 50+), reapplication every 2 hours, UV‑blocking clothing, wide‑brim hats, sunglasses, and avoidance of peak UV hours (10 am–4 pm); regular skin exams are also advised.
Yes. Testing can confirm a pathogenic UVSSA variant, clarify carrier status for relatives, and guide sun‑avoidance counseling; it is usually done via a targeted gene panel or whole‑exome sequencing with informed consent.
While the primary issue is extreme sunburn, impaired DNA repair can modestly raise skin‑cancer risk; patients should have dermatologist skin checks at least annually, with prompt biopsy of any new or changing lesions.
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.

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