DNA交联修复蛋白1C抗体
规格：1mg/1ml
英文名： DCLREC1C
别名： A SCID; A SCID protein; Artemis protein; ASCID; DCLRE1C; DCLRE1C DNA cross link repair 1C; DCLRE1C protein; DCLREC1C; DCLREC1C; DCR1C_HUMAN; DNA cross link repair 1C; DNA cross link repair 1C protein;
分子量： 78kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human DCLREC1C
交叉反应：Human, Mouse, Rat, Cow, Horse,
细胞定位：细胞核
DNA交联修复蛋白1C抗体产品介绍：background: Distinct DNA repair pathways minimize the consequences of mutagenic events. Reactive oxygen species (ROS) are highly reactive atoms with an unpaired electron that are conducive to double-strand DNA breaking events. Artemis, named after the Greek goddess for the protection of children, is one of the major proteins contributing to the preservation of double-strand breaks in DNA by cutting away the damaged parts of the DNA, which allows the strands to rejoin. Artemis is a single-strand-specific 5' to 3' exonuclease that forms a complex with the DNA-dependent protein kinase (DNA-PKcs). DNA-PKcs phosphorylates Artemis, and Artemis acquires endonucleolytic activity on 5' and 3' overhangs and hairpins. These activities are essential for V(D)J recombination and for the 5' and 3' overhang processing in nonhomologous DNA end joining. Mutations in the human Artemis protein result in hypersensitivity to DNA double-strand break-inducing agents and absence of B and T lymphocytes, which is known as "bubble boy" disease or severe combined immunodeficiency disease (SCID). The human Artemis gene maps to chromosome 10p13, and encodes a 577 amino acid protein. Function: Required for V(D)J recombination, the process by which exons encoding the DNA交联修复蛋白1C抗体antigen-binding domains of immunoglobulins and T-cell receptor proteins are assembled from individual V, (D), and J gene segments. V(D)J recombination is initiated by the lymphoid specific RAG endonuclease complex, which generates site specific DNA double strand breaks (DSBs). These DSBs present two types of DNA end structures: hairpin sealed coding ends and phosphorylated blunt signal ends. These ends are independently repaired by the non homologous end joining (NHEJ) pathway to form coding and signal joints respectively. This protein exhibits single-strand specific 5'-3' exonuclease activity in isolation and acquires endonucleolytic activity on 5' and 3' hairpins and overhangs when in a complex with PRKDC. The latter activity is required specifically for the resolution of closed hairpins prior to the formation of the coding joint. May also be required for the repair of complex DSBs induced by ionizing radiation, which require substantial end-processing prior to religation by NHEJ. Subcellular Location: Nucleus. Tissue Specificity: Ubiquitously expressed, with highest levels in the kidney, lung, pancreas and placenta (at the mRNA level). Expression is not increased in thymus or bone marrow, sites of V(D)J recombination. Post-translational modifications: Phosphorylation on undefined residues by PRKDC may stimulate endonucleolytic activity on 5' and 3' hairpins and overhangs. PRKDC must remain present, even after phosphorylation, for efficient hairpin opening. Also phosphorylated by ATM in response to ionizing radiation (IR) and by ATR in response to ultraviolet (UV) radiation. DISEASE: Defects in DCLRE1C are a cause of severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation (RSSCID) [MIM:602450]. 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 DNA交联修复蛋白1C抗体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. Individuals affected by RS-SCID show defects in the DNA repair machinery necessary for coding joint formation and the completion of V(D)J recombination. A subset of cells from such patients show increased radiosensitivity. Defects in DCLRE1C are the cause of severe combined immunodeficiency Athabaskan type (SCIDA) [MIM:602450]. SCIDA is a variety of RS-SCID caused by a founder mutation in Athabascan-speaking native Americans, being inherited as an autosomal recessive trait with an estimated gene frequency of 2.1% in the Navajo population. Affected individuals exhibit clinical symptoms and defects in DNA repair comparable to those seen in RS-SCID. Defects in DCLRE1C are a cause of Omenn syndrome (OS) [MIM:603554]. OS is characterized by severe combined immunodeficiency associated with erythrodermia, hepatosplenomegaly, lymphadenopathy and alopecia. Affected individuals have elevated T-lymphocyte counts with a restricted T-cell receptor (TCR) repertoire. They also generally lack B-lymphocytes, but have normal natural killer (NK) cell function (T+ B- NK+). Similarity: Belongs to the DNA repair metallo-beta-lactamase (DRMBL) family. Database links: Entrez Gene: 64421 Human Omim: 605988 Human SwissProt: Q96SD1 Human Unigene: 656065 Human Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
DNA交联修复蛋白1C抗体产品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
研究领域：细胞生物 表观遗传学
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid