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ENXeroderma Pigmentosum, Complementation Group D (XPD)
Alias:
Xeroderma Pigmentosum, Group D
Xeroderma Pigmentosum Iv
Xpdc
Xeroderma Pigmentosum Group D
Xeroderma Pigmentosum Viii
Xp Group D
Xp Group H
Xpd
Xp4
Xp8
Xph
Xeroderma Pigmentosum Complementation Group D
Xp4 Xeroderma Pigmentosum Viii, Formerly
Xp, Group H, Formerly
Xp8, Formerly
Xph, Formerly
Xp, Group D
Xp-D/cs
Xp-D
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Xeroderma Pigmentosum, Complementation Group D, also known as xeroderma pigmentosum, group d, is related to cerebrooculofacioskeletal syndrome 1 and trichothiodystrophy 1, photosensitive, and has symptoms including ataxia, muscle spasticity and photophobia. An important gene associated with Xeroderma Pigmentosum, Complementation Group D is ERCC2 (ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit), and among its related pathways/superpathways are Metabolism and Homology Directed Repair. Affiliated tissues include skin and eye, and related phenotypes are corneal neovascularization and keratoconjunctivitis sicca
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