Excision Repair Cross-Complementing, Group 6

Alternative Names

ERCC6
RAD26, S. Cerevisiae, Homolog of
CSB Gene

Length

85,069 bases

No. of Exons

No. of isoforms

Protein Name

DNA Excision Repair Protein ERCC-6

Molecular Mass

168416 Da

Amino Acid Count

1493

Genomic Location

chr10:49,454,470-49,539,538

Gene Map Locus

10q11.23

Description

The ERCC6 gene encodes a protein responsible for repairing DNA damaged by oxidative stress, gamma radiation, UV rays and X-rays. The protein is involved in transcription-coupled nucleotide excision repair, wherein it is required for the recruitment of numerous repair proteins to form the transcription-coupled repair complex. Mutations in the ERCC6 gene have been associated with a severe subset of Cockayne syndrome.

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_000124.4:c.2008C>T	Lebanon	chr10:49482848	Pathogenic	Pathogenic	Cockayne Syndrome B	NG_009442.1:g.61254C>T; NM_000124.4:c.2008C>T; NP_000115.1:p.Arg670Trp	202080674	190158
NM_000124.4:c.2047C>T	Saudi Arabia	NC_000010.11:g.49482809G>A	Likely Pathogenic, Pathogenic	Likely Pathogenic	Cockayne Syndrome B	NG_009442.1:g.61293C>T; NM_000124.4:c.2047C>T; NP_000115.1:p.Arg683Ter	121917904	1711
NM_000124.4:c.2569C>T	Saudi Arabia	NC_000010.11:g.49474056G>A	Pathogenic	Pathogenic	Cockayne Syndrome B	NG_009442.1:g.70046C>T; NM_000124.4:c.2569C>T; NP_000115.1:p.Arg857Ter	751448793	553383
NM_000124.4:c.2800C>A	Lebanon	chr10:49472938	Likely Pathogenic	Uncertain Significance	Breast Cancer	NG_009442.1:g.71164C>A; NM_000124.4:c.2800C>A ; NP_000115.1:p.Pro934Thr	1554875536	496904

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External Links

https://ghr.nlm.nih.gov/gene/ERCC6 https://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC6

Contributors

Sayeeda Hana: 30.10.2019

Edit History

Pratibha Nair: 09.09.2020
Sayeeda Hana: 30.10.2019

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