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DCLRE1C DNA cross-link repair 1C

Also known as: SCIDA; SNM1C; A-SCID; RS-SCID; DCLREC1C

Summary

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]

Genomic context

Location:
10p13
Sequence:
Chromosome: 10; NC_000010.11 (14897853..14954432, complement)
Total number of exons:
20

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