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

Alternative Names

  • XRCC4
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OMIM Number

194363

NCBI Gene ID

7518

Uniprot ID

Q13426

Length

292,925 bases

No. of Exons

13

No. of isoforms

3

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

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_003401.5:c.127T>CSaudi ArabiaNC_000005.10:g.83105046T>CLikely Pathogenic, PathogenicPathogenicShort Stature, Microcephaly, And Endocrine DysfunctionNG_047086.1:g.32638T>C; NM_003401.5:c.127T>C; NP_003392.1:p.Trp43Arg587779351127246
NM_003401.5:c.401T>CLebanonNC_000005.10:g.83195855T>CBenign, Likely BenignUncertain SignificanceBreast CancerNG_047086.1:g.123447T>C; NM_003401.5:c.401T>C; NP_003392.1:p.Ile134Thr283601351300523
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