XRCC4
Sign in to saveAlso 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
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
X-ray repair cross complementing 4
- Symbol
- XRCC4
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 5:83,077,498-83,370,453
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Available in 9 languages
via Wikidata sitelinks · CC0