Artemis protein 0.1 mg Artemis protein 0.05 mg

 Source: Chicken

 Purity: Immunoaffinity Purified

 Clonality: Polyclonal

 Crossreactivity: Human

 Format: Phosphate-Buffered Saline. No preservatives added.

 Storage: 4 degree C for short term (weeks) and -20 degree C for long term. Avoid frequent freeze and thaw.

 Stability: 6-12 months at -20 degree C.

 Shipping: Products may be shipped on ice pack or dry ice. 
 
 DCLRE1C ANTIBODY TARGET DESCRIPTION:
Synonym Names for DCLRE1C antibody: DCLRE1C; ARTEMIS; ASCID; SCIDA; SNM1C; A-SCID; RS-SCID; EC 3.1.-.-; DNA cross-link repair 1C protein; SNM1-like protein; A-SCID protein; hSNM1C; DNA cross-link repair 1C

Function: Required for V(D)J recombination, the process by which exons encoding the 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.

Subunit: Interacts with ATM, BRCA1, PRKDC and TP53BP1. Also exhibits ATM- and phosphorylation-dependent interaction with the MRN complex, composed of MRE11A/MRE11, RAD50, and NBN.

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.

Ptm: 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 with sensitivity to ionizing radiation (RS-SCID) [MIM:602450]. Severe combined immunodeficiency refers to a genetically and clinically heterogeneous group of disorders with defective cellular and humoral immune function. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms. Patients generally die within the first year of life unless treated by bone marrow transplantation. 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 also lack B-lymphocytes but retain normal levels of natural killer (NK) cells (T- B- NK+). Functional expression studies in cells derived from these patients 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.

Disease: Defects in DCLRE1C are the cause of Athabascan SCID (A-SCID) [MIM:602450]. A-SCID 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.

Disease: Defects in DCLRE1C are the cause of partial severe combined immunodeficiency (partial SCID) [MIM:602450]. Partial SCID is a mild form of RS-SCID, in which affected individuals retain low levels of B- and T-lymphocytes. Certain patients may develop B-cell lymphoproliferative disease involving lymph nodes, liver, lung, and skeletal muscle.

Disease: Defects in DCLRE1C are a cause of Omenn Syndrome [MIM:603554]. Omenn syndrome 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.

Artemis protein reacts with human.

OMIM: 602450; phenotype. [NCBI / EBI]
603554; phenotype. [NCBI / EBI]
605988; gene. [NCBI / EBI] 
 
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