ERCC2 gene


Gene (OMIM No.)
Function of gene/protein
  • Excision repair cross-complementing rodent repair deficiency, complementation group 2 (XPD)
  • Involved in nucleotide excision repair (NER) and transcription-coupled repair
  • ATP-dependent 5’-3’ DNA helicase activity
Clinical phenotype
(OMIM phenotype no.)
  • Xeroderma pigmentosum, complementation group D (XP-D) (#278730)
  • Trichothiodystrophy, photosensitive (TTD) (#601675)
  • Cerebrooculofacioskeletal syndrome 2 (COFS2) (#216360)
  • Autosomal recessive
Ocular features
  • Photosensitivity
  • Retinal degeneration
  • Cataracts
Visual function
  • Progressive vision impairment due to retinal and lens changes
Systemic features
  • Skin abnormalities (e.g., freckling, atrophy)
  • Neurological impairment
  • Developmental delay
Key investigations
  • Genetic testing: identification of ERCC2 mutations
  • Clinical evaluation for skin, neurological, and developmental symptoms
  • Protection from UV light
  • Regular monitoring by dermatology, neurology, and ophthalmology
  • Symptomatic treatment and supportive care
Therapies under research
  • None currently specified

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  1. Kunze S, Dalke C, Fuchs H, Klaften M, Rössler U, Hornhardt S, Gomolka M, Puk O, Sabrautzki S, Kulka U, Hrabě de Angelis M. New mutation in the mouse Xpd/Ercc2 gene leads to recessive cataracts. PLoS One. 2015 May 7;10(5):e0125304.

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Updated on July 8, 2024
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