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References OMIM Gene GeneReviews HGMD HGNC
last update : 25-02-2015
Symbol XPD
Location 19q13.32
Name xeroderma pigmentosum, complementation group D
Corresponding gene ERCC2
Other symbol(s) TTD
Main clinical features
  • with/without Cockayne syndrome
  • photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility, ocular abnormalities (cataract), and short stature (Faghri 2008)
  • including trichothiodystrophy with lack of most ultrahigh-sulfur keratin associated proteins and brittle hair, sun sensitivity, ichthyosis, impaired intelligence, decreased fertility, short stature (PIBDS,OMIM 601675)
  • Genetic determination
    Function/system disorder dermatology
    Type disease
    Gene product
    Name DNA helicase, TFIIH (GTF2H) component (nucleotide excision repair)