Human DCLRE1C peptide

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.

Nature

Synthetic

Tag/Conjugate

Unconjugated

Format

Liquid

Preservative

None

Storage

Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles. Information available upon request.

Gene ID

64421

UniProt ID

Q96SD1

Antigen Description

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

5-3 exonuclease activity; single-stranded DNA endodeoxyribonuclease activity;

Synonyms

DCLRE1C; DNA cross-link repair 1C; SCIDA; SNM1C; A-SCID; RS-SCID; DCLREC1C; protein artemis; SNM1 homolog C; SNM1-like protein; severe combined immunodeficiency, type a (Athabascan); DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae);