DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae), ELISA Kit

Human Protein artemis (DCLRE1C) ELISA kit; RP11-398C13.5; A-SCID; DCLREC1C; FLJ11360; FLJ36438; RS-SCID; SCIDA; SNM1C; OTTHUMP00000019166; OTTHUMP00000019167; OTTHUMP00000019168; OTTHUMP00000019170; OTTHUMP00000019171; OTTHUMP00000019172; artemis; DNA cross-link repair 1C (PSO2 homolog; S. cerevisiae)

For Research Use Only. Not for use in diagnostic procedures.

Store all reagents at 2-8 degree C

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Small volumes of DCLRE1C elisa kit vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

MBS9337255 is a ready-to-use microwell, strip plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae) (DCLRE1C) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing DCLRE1C. The ELISA analytical biochemical technique of the MBS9337255 kit is based on DCLRE1C antibody-DCLRE1C antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect DCLRE1C antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, DCLRE1C. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).

78,436 Da

DNA cross-link repair 1C

protein artemis; SNM1 homolog C; SNM1-like protein; severe combined immunodeficiency, type a (Athabascan); DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)

Protein artemis

ARTEMIS; ASCID; SCIDA; SNM1C; hSNM1C  [Similar Products]

DCR1C_HUMAN

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]

Artemis: 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. 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). 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. 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). 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). 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+). Belongs to the DNA repair metallo-beta-lactamase (DRMBL) family. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Deoxyribonuclease; DNA repair, damage; EC 3.1.-.-

Chromosomal Location of Human Ortholog: 10p13

Cellular Component: nucleus

Molecular Function: 5'-3' exonuclease activity; single-stranded DNA specific endodeoxyribonuclease activity

Biological Process: V(D)J recombination; B cell differentiation; double-strand break repair; response to ionizing radiation; telomere maintenance; DNA catabolic process, endonucleolytic

Disease: Omenn Syndrome; Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation

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