Identity
HGNC
LOCATION
15q26.1
LOCUSID
ALIAS
MDP1,MIRAS,MTDPS4A,MTDPS4B,PEO,POLG1,POLGA,SANDO,SCAE
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 5428
MIM: 174763
HGNC: 9179
Ensembl: ENSG00000140521
Variants:
dbSNP: 5428
ClinVar: 5428
TCGA: ENSG00000140521
COSMIC: POLG
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Metabolic pathways | KEGG | hsa01100 |
| DNA polymerase gamma complex | KEGG | hsa_M00294 |
| DNA polymerase gamma complex | KEGG | M00294 |
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA164783479 | divalproex sodium | Chemical | LabelAnnotation | associated | |||
| PA164925725 | Toxic liver disease | Disease | ClinicalAnnotation | associated | PD | 21038416 | |
| PA451846 | valproic acid | Chemical | ClinicalAnnotation, LabelAnnotation, MultilinkAnnotation | associated | PD | 18208989, 19054397, 20138553, 21038416, 21357833, 21455106, 21686371, 23448099 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38070461 | 2024 | POLG1 variants can at most cause MNGIE-like but not classic MNGIE phenotype. | 0 |
| 38471579 | 2024 | Genetic heterogeneity and respiratory chain enzyme analysis in pediatric Indian patients with mitochondrial disorder: Report of novel variants in POLG1 gene and their functional implication using molecular dynamic simulation. | 0 |
| 38570685 | 2024 | Ancestral allele of DNA polymerase gamma modifies antiviral tolerance. | 1 |
| 38787958 | 2024 | An interaction network in the polymerase active site is a prerequisite for Watson-Crick base pairing in Pol γ. | 0 |
| 38070461 | 2024 | POLG1 variants can at most cause MNGIE-like but not classic MNGIE phenotype. | 0 |
| 38471579 | 2024 | Genetic heterogeneity and respiratory chain enzyme analysis in pediatric Indian patients with mitochondrial disorder: Report of novel variants in POLG1 gene and their functional implication using molecular dynamic simulation. | 0 |
| 38570685 | 2024 | Ancestral allele of DNA polymerase gamma modifies antiviral tolerance. | 1 |
| 38787958 | 2024 | An interaction network in the polymerase active site is a prerequisite for Watson-Crick base pairing in Pol γ. | 0 |
| 35965220 | 2023 | POLG mutation setting off 'FIRES'. | 0 |
| 36703500 | 2023 | [Adult-onset sensory neuropathy and ataxia as a clinical manifestation of POLG gene mutations]. | 0 |
| 36744436 | 2023 | Mechanism of strand displacement DNA synthesis by the coordinated activities of human mitochondrial DNA polymerase and SSB. | 5 |
| 37105450 | 2023 | POLG genotype influences degree of mitochondrial dysfunction in iPSC derived neural progenitors, but not the parent iPSC or derived glia. | 1 |
| 37138020 | 2023 | DNA polymerase gamma variants and hepatotoxicity during maintenance therapy of childhood acute lymphoblastic leukemia: is there a causal relationship? | 0 |
| 35965220 | 2023 | POLG mutation setting off 'FIRES'. | 0 |
| 36703500 | 2023 | [Adult-onset sensory neuropathy and ataxia as a clinical manifestation of POLG gene mutations]. | 0 |
Citation
Dessen P
POLG (DNA polymerase gamma, catalytic subunit)
Atlas Genet Cytogenet Oncol Haematol. 2006-10-01
Online version: http://atlasgeneticsoncology.org/gene/43420/polg-(dna-polymerase-gamma-catalytic-subunit)
