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GENATLAS PHENOTYPE

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)

Remark(s)