XRCC4 ist ein Gen, das durch das Symbol XRCC4 kodiert wird. Es ist auch bekannt als DNA repair protein X-ray repair cross-complementing protein 4. XRCC4 hat eine Masse von 38.29kDa, eine Aminosäurelänge von 336, und ist an Short stature, microcephaly, and endocrine dysfunction beteiligt.
Wir bieten 9 antikörper gegen XRCC4, aufgewachsen in Kaninchen und Maus, welche geeignet sind für WB, IHC, ELISA, ICC/IF and IP mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
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.
Entrez Zusammenfassung
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.
Gewebespezifität
Widely expressed.
Rolle bei Krankheiten
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.
Sequenzähnlichkeiten
Belongs to the XRCC4 family.
Posttranslationale Modifikation
Phosphorylated by PRKDC. The phosphorylation seems not to be necessary for binding to DNA. Phosphorylation by CK2 promotes interaction with APTX.
