XRCC4

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). Alternative splicing generates several transcript variants. [provided by RefSeq, Dec 2015]

Description

X-ray repair cross complementing 4

Protein family

Cancer-related genes, Disease related genes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Predicted intracellular proteins, Protein evidence (Peptideatlas)

Chromosome

5:q14.2 (83077498 - 83353787)

Ensembl ID

ENSG00000152422  (ver. 99.38)

Orthologs

Mouse Xrcc4: ENSMUSG00000021615

UniProt

Q13426

neXtProt

NX_Q13426

Human splice variants
Mouse splice variants