LIG3 Chromosome 17
DNA ligase 3
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What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Zinc fingers PARP-type|DNA ligases"
Locus Type
gene with protein product
Location
17q12
Ensembl
ENSG00000005156
Associated Conditions (2)
Inborn genetic diseases
Mitochondrial DNA depletion syndrome 20 (mngie type)
Key Variants
RS140462567
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS187881525
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201705066
Conflicting classifications of pathogenicity
Health Risk
RS35956074
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2142286963
Likely pathogenic
Mitochondrial DNA depletion syndrome 20 (mngie type), Mitochondrial DNA depletion syndrome 20 (mngie type)
Health Risk
RS566713386
Likely pathogenic
Mitochondrial DNA depletion syndrome 20 (mngie type), Mitochondrial DNA depletion syndrome 20 (mngie type)
Health Risk
RS1192808191
Pathogenic
Mitochondrial DNA depletion syndrome 20 (mngie type), Mitochondrial DNA depletion syndrome 20 (mngie type)
Health Risk
RS199702205
Pathogenic
Mitochondrial DNA depletion syndrome 20 (mngie type), Mitochondrial DNA depletion syndrome 20 (mngie type)
Health Risk
RS2090759946
Pathogenic
Mitochondrial DNA depletion syndrome 20 (mngie type), Mitochondrial DNA depletion syndrome 20 (mngie type)
Health Risk
RS2142263659
Pathogenic
Mitochondrial DNA depletion syndrome 20 (mngie type), Mitochondrial DNA depletion syndrome 20 (mngie type)
Health Risk
RS2142294288
Pathogenic
Mitochondrial DNA depletion syndrome 20 (mngie type), Mitochondrial DNA depletion syndrome 20 (mngie type)
Health Risk
RS750089034
Pathogenic
Mitochondrial DNA depletion syndrome 20 (mngie type), Mitochondrial DNA depletion syndrome 20 (mngie type)
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140462567 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS187881525 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201705066 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS35956074 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2142286963 | Health Risk | Likely pathogenic | Mitochondrial DNA depletion syndrome 20 (mngie type), Mitochondrial DNA depletion syndrome 20 (mngie type) |
| RS566713386 | Health Risk | Likely pathogenic | Mitochondrial DNA depletion syndrome 20 (mngie type), Mitochondrial DNA depletion syndrome 20 (mngie type) |
| RS1192808191 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 20 (mngie type), Mitochondrial DNA depletion syndrome 20 (mngie type) |
| RS199702205 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 20 (mngie type), Mitochondrial DNA depletion syndrome 20 (mngie type) |
| RS2090759946 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 20 (mngie type), Mitochondrial DNA depletion syndrome 20 (mngie type) |
| RS2142263659 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 20 (mngie type), Mitochondrial DNA depletion syndrome 20 (mngie type) |
| RS2142294288 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 20 (mngie type), Mitochondrial DNA depletion syndrome 20 (mngie type) |
| RS750089034 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 20 (mngie type), Mitochondrial DNA depletion syndrome 20 (mngie type) |
| RS771267651 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 20 (mngie type), Mitochondrial DNA depletion syndrome 20 (mngie type) |