DCLRE1C, Official Symbol DCLRE1Cprovided by HGNC Official Full Name DNA cross-link repair 1Cprovided by HGNC Primary source HGNC:HGNC:17642 See related Ensembl:ENSG00000152457 MIM:605988; AllianceGenome:HGNC:17642 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo 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] Expression Ubiquitous expression in lymph node (RPKM 3.7), spleen (RPKM 2.8) and 24 other tissues See more Orthologs mouse all