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Gene : DCLRE1C Homo sapiens

Name  ? DNA cross-link repair 1C Cytological Location  10p13
Brief Description  DNA cross-link repair 1C
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]
  • synonyms:
  • uc001inn.5,
  • DCLRE1C,
  • DCLREC1C,
  • ARTEMIS,
  • SNM1C,
  • DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae),
  • SNM1C,
  • NM_022487,
  • BC022254,
  • HGNC:17642,
  • SCIDA,
  • OTTHUMG00000017716,
  • A-SCID,
  • A-SCID,
  • severe combined immunodeficiency, type a (Athabascan),
  • RS-SCID,
  • SCIDA,
  • PSO2 homolog (S. cerevisiae),
  • FLJ11360
  • identifiers:
  • 64421,
  • ENSG00000152457,
  • DCLRE1C

Genome feature

Region: gene ? Length: 57074  
Location: 10:14897359-14954432 reverse strand Cyto location: 10p13


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Disease

2 Diseases

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677 SN Ps

5 Cross References

19 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results