XRCC4 è un gene codificato dal simbolo XRCC4. È noto anche come DNA repair protein X-ray repair cross-complementing protein 4. XRCC4 ha una massa di 38.29kDa, una lunghezza di amminoacidi di 336, ed è implicato in Short stature, microcephaly, and endocrine dysfunction.
Offriamo 9 anticorpi contro XRCC4, allevati nel Coniglio e Topo, che sono adatti per WB, IHC, ELISA, ICC/IF e IP con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. Binds to DNA and to DNA ligase IV (LIG4). The LIG4-XRCC4 complex is responsible for the NHEJ ligation step, and XRCC4 enhances the joining activity of LIG4. Binding of the LIG4-XRCC4 complex to DNA ends is dependent on the assembly of the DNA-dependent protein kinase complex DNA-PK to these DNA ends.
Sommario di Entrez
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.
Specificità del tessuto
Widely expressed.
Coinvolgimento nella malattia
Short stature, microcephaly, and endocrine dysfunction: A disease characterized by short stature and microcephaly apparent at birth, progressive postnatal growth failure, and endocrine dysfunction. In affected adults endocrine features include hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus. Variable features observed in some patients are progressive ataxia, and lymphopenia or borderline leukopenia.
Somiglianze di sequenza
Belongs to the XRCC4 family.
Modifica post-translazionale
Phosphorylated by PRKDC. The phosphorylation seems not to be necessary for binding to DNA. Phosphorylation by CK2 promotes interaction with APTX.
Posizione cellulare
Nucleus.
