Xeroderma pigmentosum: Overview of genes, frequency, functional pathways, and associated syndromes

Gene	Chromosomal location	OMIM	Frequency within patients with XP	Protein function	Associated pathway	Associated syndrome(s)	Sunburn, photosensitivity	Neurologic defects
XPA	9q22.33	611153	30%	DNA repair coordination	TC-NER	XP	Severe	+/–
XPB/ERCC3	2q14.3	133510	0.5%	3'-5' helicase	TC-NER	XP, CS, TTD	Severe	+
XPC	3p25.1	613208	27%	DNA lesion recognition	GG-NER	XP	Mild	+/–
XPD/ERCC2	19q13.3	126340	15%	5'-3' helicase	TC-NER	XP, TTD, COFS syndrome, CS	Severe	+/–
XPE/DDB2	11p11.2	600811	1%	DNA lesion recognition	GG-NER	XP	Mild	–
XPF/ERCC4	16p13.12	133520	2%	5' endonuclease heterodimer with ERCC1	TC-NER	XP, XFE progeroid syndrome, CS, FA	Severe	+/–
XPG/ERCC5	13q33.1	133530	1%	3' endonuclease	TC-NER	XP, CS, COFS syndrome	Severe	+/–
XPV/POLH	6p21.1	603968	23.5%	Lesion bypass polymerase	TLS	XP	Mild	–
ERCC1	19q13.32	126380	<0.5%	5' endonuclease heterodimer with XPF	TC-NER	XP, CS, COFS syndrome	Severe	+

OMIM: Online Mendelian Inheritance in Man; XP: xeroderma pigmentosum; DNA: deoxyribonucleic acid; TC-NER: transcription-coupled nucleotide excision repair; CS: Cockayne syndrome; TTD: trichothiodystrophy; GG-NER: global genome nucleotide excision repair; COFS: cerebro-oculo-facio-skeletal; FA: Fanconi anemia.

Graphic 142535 Version 2.0

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Xeroderma pigmentosum: Overview of genes, frequency, functional pathways, and associated syndromes