XRCC4

Also known as SSMED, X-ray repair complementing defective repair in Chinese hamster cells 4, X-ray repair cross complementing 4, hXRCC4

protein-coding gene in the species Homo sapiens

In the Vinony graph

Within Vinony's link graph, XRCC4 is referenced by 19 other articles, and connects out to amino acid, Q180686 and B-cell.

Vinony files it under DNA repair, Genes on human chromosome 5 and Protein pages needing a picture.

Its subject is documented across 9 Wikipedia language editions.

Gene data

XRCC4

Name: X-ray repair cross complementing 4
Type: protein-coding
Position: 83,077,498–83,370,453 (+)
Aliases: SSMED, hXRCC4
Ensembl: ENSG00000152422
RefSeq RNA: NM_001318012.3, NM_001318013.2, NM_003401.5, NM_022406.5, NM_022550.4
RefSeq protein: NP_001304941.1, NP_001304942.1, NP_003392.1, NP_071801.1, NP_072044.1

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). Alternate transcript variants such as NM_022406 are unlikely to be expressed in some individuals due to a polymorphism (rs1805377) in the last splice acceptor site. [provided by RefSeq, Oct 2019].