Target：Artemis
Fields：Non-homologous end-joining;Primary immunodeficiency
Gene Name：DCLRE1C
Protein Name：Protein artemis
Human Gene Id：64421
Human Swiss Prot No：Q96SD1
Mouse Gene Id：227525
Mouse Swiss Prot No：Q8K4J0
Immunogen：The antiserum was produced against synthesized peptide derived from human Artemis around the phosphorylation site of Ser516. AA range:482-531
Specificity：Phospho-Artemis (S516) Polyclonal Antibody detects endogenous levels of Artemis protein only when phosphorylated at S516.
Formulation：Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Source：Polyclonal, Rabbit,IgG
Dilution：WB 1:500 - 1:2000. IHC 1:100 - 1:300. ELISA: 1:5000.. IF 1:50-200
Purification：The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Concentration：1 mg/ml
Storage Stability：-15°C to -25°C/1 year(Do not lower than -25°C)
Other Name：DCLRE1C;ARTEMIS;ASCID;SCIDA;SNM1C;Protein artemis;DNA cross-link repair 1C protein;Protein A-SCID;SNM1 homolog C;hSNM1C;SNM1-like protein
Observed Band(KD)：78kD
Background： 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],
Function：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
Subcellular Location：Nucleus .
Expression：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.
