Rabbit anti-Human XRCC4 Polyclonal Antibody

Uniprot Id

Q13426

Target Species

Human

Target Name

XRCC4

Target Full Name

DNA repair protein XRCC4

Target Function

DNA non-homologous end joining (NHEJ) core factor, required for double-strand break repair and V(D)J recombination. Acts as a scaffold protein that regulates recruitment of other proteins to DNA double-strand breaks (DSBs). Associates with NHEJ1/XLF to form alternating helical filaments that bridge DNA and act like a bandage, holding together the broken DNA until it is repaired. The XRCC4-NHEJ1/XLF subcomplex binds to the DNA fragments of a DSB in a highly diffusive manner and robustly bridges two independent DNA molecules, holding the broken DNA fragments in close proximity to one other. The mobility of the bridges ensures that the ends remain accessible for further processing by other repair factors. Plays a key role in the NHEJ ligation step of the broken DNA during DSB repair via direct interaction with DNA ligase IV (LIG4): the LIG4-XRCC4 subcomplex reseals the DNA breaks after the gap filling is completed. XRCC4 stabilizes LIG4, regulates its subcellular localization and enhances LIG4's joining activity. Binding of the LIG4-XRCC4 subcomplex to DNA ends is dependent on the assembly of the DNA-dependent protein kinase complex DNA-PK to these DNA ends. Promotes displacement of PNKP from processed strand break termini.; Acts as an activator of the phospholipid scramblase activity of XKR4. This form, which is generated upon caspase-3 (CASP3) cleavage, translocates into the cytoplasm and interacts with XKR4, thereby promoting phosphatidylserine scramblase activity of XKR4 and leading to phosphatidylserine exposure on apoptotic cell surface.

Target Involvement

Short stature, microcephaly, and endocrine dysfunction (SSMED)

Target Subcellular Location

Nucleus. Chromosome.; [Protein XRCC4, C-terminus]: Cytoplasm.

Target Protein Families

XRCC4 family

Target Tissue Specificity

Widely expressed.

Target Research Area

others

Target Synonyms

DNA double strand break repair and V(D)J recombination protein XRCC4; DNA repair protein XRCC4; SSMED; X ray repair complementing defective repair in Chinese hamster cells 4; X ray repair cross complementing 4; X ray repair cross complementing protein 4; X-ray repair cross-complementing protein 4; XRCC 4; XRCC4; XRCC4_HUMAN

Target Background

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.