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

XPC gene

The XPC gene provides instructions for a protein that initiates the repair of DNA damaged by environmental factors like ultraviolet radiation.

Normal Function

The XPC gene provides instructions for making a protein involved in repairing damaged DNA. DNA is frequently damaged by ultraviolet (UV) rays from sunlight, toxic chemicals, radiation, and free radicals.

Cells use a mechanism called nucleotide excision repair (NER) to fix this damage. The XPC protein is responsible for detecting the damage, after which a complex of other proteins unwinds the DNA, removes the abnormal section, and replaces it with the correct genetic sequence.

Health Conditions Related to Genetic Changes

Xeroderma pigmentosum

Variants in the XPC gene are a common cause of xeroderma pigmentosum, a condition characterized by extreme sensitivity to UV rays. Because the XPC protein is missing or non-functional, cells cannot repair DNA damage caused by sunlight, leading to an accumulation of mutations that can cause cells to become cancerous.

Key features and risks associated with XPC-related xeroderma pigmentosum include:

  • High risk of sunlight-induced skin and eye cancers
  • Premature aging
  • Increased risk of early menopause

Unlike some other forms of xeroderma pigmentosum, the form caused by XPC variants is generally not associated with neurological abnormalities such as hearing loss or delayed development.

Other Names for This Gene

  • RAD4
  • Xeroderma pigmentosum group C-complementing protein
  • xeroderma pigmentosum, complementation group C
  • XP3
  • XPC_HUMAN
  • XPCC

Frequently Asked Questions

Use broad‑spectrum sunscreen (SPF 50+) every 2 hours when outdoors, wear UV‑blocking clothing, a wide‑brimmed hat, and sunglasses with 100% UV protection. Schedule regular dermatologic exams every 3–6 months for early detection of actinic keratoses or malignant lesions. Consider photoprotection devices such as UV‑blocking curtains or window films in living spaces.
Discuss testing with a genetic counselor who can explain the implications of a pathogenic XPC variant. Blood or saliva samples are collected for sequencing. A positive result indicates a 50% chance of passing the mutation to offspring if one parent is affected. Prenatal testing or pre‑implantation genetic diagnosis (PGD) can be considered for families wishing to avoid transmission.
No curative gene therapy is currently available. Symptomatic management focuses on aggressive sun avoidance, regular skin surveillance, and prompt treatment of precancerous lesions. Some patients use topical retinoids to reduce actinic keratoses, but efficacy varies. Research into small‑molecule enhancers of nucleotide excision repair is ongoing but not yet clinically approved.
void direct sun exposure between 10 a.m. and 4 p.m. When outside, wear tightly woven, long‑sleeved clothing, a wide‑brimmed hat, and UV‑blocking sunglasses. Apply sunscreen to all exposed skin, including ears, neck, and hands, and reapply after sweating or towel drying. Use a protective barrier cream (e.g., zinc oxide) on sensitive areas and consider a UV‑blocking face mask if needed.
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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