X-Ray Repair, Complementing Defective, in Chinese Hamster, 4

Alternative Names

XRCC4

Length

292,925 bases

No. of Exons

No. of isoforms

Protein Name

DNA repair protein XRCC4

Molecular Mass

38287 Da

Amino Acid Count

336

Genomic Location

chr5:83,077,409-83,370,333

Gene Map Locus

5q14.2

Description

The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand breaks. This protein plays a role in both non-homologous end joining and the completion of V(D)J recombination. Mutations in this gene can cause short stature, microcephaly, and endocrine dysfunction (SSMED). [From RefSeq]

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_003401.5:c.127T>C	Saudi Arabia	NC_000005.10:g.83105046T>C	Likely Pathogenic, Pathogenic	Pathogenic	Short Stature, Microcephaly, And Endocrine Dysfunction	NG_047086.1:g.32638T>C; NM_003401.5:c.127T>C; NP_003392.1:p.Trp43Arg	587779351	127246
NM_003401.5:c.401T>C	Lebanon	NC_000005.10:g.83195855T>C	Benign, Likely Benign	Uncertain Significance	Breast Cancer	NG_047086.1:g.123447T>C; NM_003401.5:c.401T>C; NP_003392.1:p.Ile134Thr	28360135	1300523

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=XRCC4 https://www.ncbi.nlm.nih.gov/gene/7518

Contributors

Pratibha Nair: 08.09.2020

Edit History

Sayeeda Hana: 22.01.2022
Pratibha Nair: 08.09.2020

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