Gene: LIG3

Alternate names for this Gene: LIG2|LIG3alpha

Gene Summary: This gene is a member of the DNA ligase family. Each member of this family encodes a protein that catalyzes the joining of DNA ends but they each have a distinct role in DNA metabolism. The protein encoded by this gene is involved in excision repair and is located in both the mitochondria and nucleus, with translation initiation from the upstream start codon allowing for transport to the mitochondria and translation initiation from a downstream start codon allowing for transport to the nucleus. Additionally, alternate transcriptional splice variants, encoding different isoforms, have been characterized.

Gene is located in Chromosome: 17

Location in Chromosome : 17q12

Description of this Gene: DNA ligase 3

Type of Gene: protein-coding

rs3135977 in LIG3 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs1052536 in LIG3 gene and QT interval feature (observable entity) PMID 24952745 2014 Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

PMID 19305408 2009 Common variants at ten loci influence QT interval duration in the QTGEN Study.

PMID 30679814 2019 Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits.

rs3135977 in LIG3 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.