Synonyms:DNA ligase 1, ENTREZ:3978, HGNC:6598, LIG1, MIM:126391, NM_000234, NM_001289063, NM_001289064, NM_001320970, NM_001320971, NP_000225, NP_001275992, NP_001275993, NP_001307899, NP_001307900, NR_110296, NR_135497, NR_135498, NR_135499, NR_135500, NR_135501, XM_024451513, XP_024307281, XR_002958315, XR_002958316
Omim:OMIM:126391
Id:ENSG00000105486
Hgnc:HGNC:6598
Description:DNA ligase 1
This gene encodes a member of the ATP-dependent DNA ligase protein family. The encoded protein functions in DNA replication, recombination, and the base excision repair process. Mutations in this gene that lead to DNA ligase I deficiency result in immunodeficiency and increased sensitivity to DNA-damaging agents. Disruption of this gene may also be associated with a variety of cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]