Recombinant full length protein corresponding to Human XLF.
HEK293T cellstransfected with pCMV6-ENTRY XLF cDNA, Human breast, Human Kidney, Adenocarcinoma of Human ovary, Adenocarcinoma of Human endometrium, Human prostate, Carcinoma of Human prostate and Carcinoma of Human bladder tissues, COS7 cells transiently transfected with XLF
常规说明Dilute in PBS (pH7.3) before use.
存放说明Shipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid freeze / thaw cycles.
功能DNA repair protein involved in DNA nonhomologous end joining (NHEJ) required for double-strand break (DSB) repair and V(D)J recombination. May serve as a bridge between XRCC4 and the other NHEJ factors located at DNA ends, or may participate in reconfiguration of the end bound NHEJ factors to allow XRCC4 access to the DNA termini. It may act in concert with XRCC6/XRCC5 (Ku) to stimulate XRCC4-mediated joining of blunt ends and several types of mismatched ends that are noncomplementary or partially complementary.
疾病相关Defects in NHEJ1 are the cause of severe combined immunodeficiency due to NHEJ1 deficiency (NHEJ1-SCID) [MIM:611291]; also known as autosomal recessive T cell-negative, B cell-negative, NK cell-positive, severe combined immunodeficiency with microcephaly, growth retardation and sensitivity to ionizing radiation or NHEJ1 syndrome. SCID refers to a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia and low or absent antibody levels. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. NHEJ1-SCID is characterized by a profound T- and B-lymphocytopenia associated with increased cellular sensitivity to ionizing radiation, microcephaly and growth retardation. Some patients may manifest SCID with sensitivity to ionizing radiation without microcephaly and mild growth retardation, probably due to hypomorphic NHEJ1 mutations. Note=A chromosomal aberration involving NHEJ1 is found in a patient with polymicrogyria. Translocation t(2;7)(q35;p22).
Lane 1: Wild-type HAP1 cell lysate (20 µg) Lane 2: XLF knockout HAP1 cell lysate (20 µg)
Lanes 1 - 2: Merged signal (red and green). Green – ab119375 observed at 38 kDa. Red - loading control, ab129002, observed at 124 kDa.
ab119375 was shown to specifically react with XLF when XLF knockout samples were used. Wild-type and XLF knockout samples were subjected to SDS-PAGE. ab119375 and ab129002 (loading control to Vinculin) were diluted at 1/500 and 1/10 000 respectively and incubated overnight at 4°C. Blots were developed with goat anti-rabbit IgG (H + L) and goat anti-mouse IgG (H + L) secondary antibodies at 1/10000 dilution for 1 hour at room temperature before imaging.
Western blot - Anti-XLF antibody [1F3] (ab119375)
All lanes : Anti-XLF antibody [1F3] (ab119375) at 1/500 dilution
Lane 1 : HEK293T cell lysate transfected with pCMV6-ENTRY control Lane 2 : HEK293T cell lysate transfected with pCMV6-ENTRY XLF cDNA
Lysates/proteins at 5 µg per lane.
Predicted band size : 33 kDa HEK293T cell lysates were generated from transient transfection of the cDNA clone (RC203393)