Excision-Repair, Complementing Defective, In Chinese Hamster, 4

Alternative Names

ERCC4
XPF Gene

Length

32,212 bases

No. of Exons

No. of isoforms

Protein Name

DNA repair endonuclease XPF

Molecular Mass

104,486Da

Amino Acid Count

916

Genomic Location

chr16:13,920,137-13,952,348

Gene Map Locus

16p13.12

Description

The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[From RefSeq]

Epidemiology in the Arab World

View Map

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_005236.3:c.1633G>C	Lebanon	chr16:13935565		Uncertain Significance	Breast Cancer	NG_011442.1:g.20409G>C; NM_005236.3:c.1633G>C; NP_005227.1:p.Gly545Arg	773007457
NM_005236.3:c.909T>G	Egypt	NC_000016.10:g.13930826T>G		Pathogenic	Xeroderma Pigmentosum, Complementation Group F	NG_011442.1:g.15670T>G; NM_005236.3:c.909T>G; NP_005227.1:p.Cys303Trp

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC4

Contributors

Asha Deepthi: 29.09.2020

Edit History

Sayeeda Hana: 29.01.2022
Asha Deepthi: 29.09.2020

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