• 靶点：
• Artemis

• 简介：
• >>Non-homologous end-joining;>>Primary immunodeficiency

• 基因名称：
• DCLRE1C

• 蛋白名称：
• Protein artemis

• Human Gene Id：
• 64421

• Human Swiss Prot No：
• Q96SD1

• Mouse Gene Id：
• 227525

• Mouse Swiss Prot No：
• Q8K4J0

• 免疫原：
• The antiserum was produced against synthesized peptide derived from human Artemis around the phosphorylation site of Ser516. AA range:482-531

• 特异性：
• Phospho-Artemis (S516) Polyclonal Antibody detects endogenous levels of Artemis protein only when phosphorylated at S516.

• 组成：
• Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

• 来源：
• Polyclonal, Rabbit,IgG

• 稀释：
• WB 1:500 - 1:2000. IHC 1:100 - 1:300. ELISA: 1:5000.. IF 1:50-200

• 纯化工艺：
• The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

• 浓度：
• 1 mg/ml

• 储存：
• -15°C to -25°C/1 year(Do not lower than -25°C)

• 其他名称：
• DCLRE1C;ARTEMIS;ASCID;SCIDA;SNM1C;Protein artemis;DNA cross-link repair 1C protein;Protein A-SCID;SNM1 homolog C;hSNM1C;SNM1-like protein

• 实测条带：
• 78kD

• 背景：
• This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The encoded protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins. The protein also functions in the regulation of the cell cycle in response to DNA damage. Mutations in this gene can cause Athabascan-type severe combined immunodeficiency (SCIDA) and Omenn syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014],

• 功能：
• disease: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+).,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 recurrent, persi

• 细胞定位：
• Nucleus .

• 组织表达：
• 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.

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