POLG

DNA polymerase gamma, catalytic subunit, the group of DNA polymerases|MicroRNA protein coding host genes

Basic information

Region (hg38): 15:89305197-89334861

Links

ENSG00000140521 ∙ NCBI:5428 ∙ OMIM:174763 ∙ HGNC:9179 ∙ Uniprot:P54098 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• mitochondrial DNA depletion syndrome 4a (Definitive), mode of inheritance: AR
• mitochondrial DNA depletion syndrome 4a (Definitive), mode of inheritance: AR
• sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (Definitive), mode of inheritance: AR
• progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 (Definitive), mode of inheritance: AD
• mitochondrial DNA depletion syndrome 4a (Strong), mode of inheritance: AR
• mitochondrial DNA depletion syndrome 4a (Supportive), mode of inheritance: AR
• mitochondrial neurogastrointestinal encephalomyopathy (Supportive), mode of inheritance: AR
• sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (Supportive), mode of inheritance: AR
• recessive mitochondrial ataxia syndrome (Supportive), mode of inheritance: AR
• spinocerebellar ataxia with epilepsy (Supportive), mode of inheritance: AR
• autosomal recessive progressive external ophthalmoplegia (Supportive), mode of inheritance: AR
• autosomal dominant progressive external ophthalmoplegia (Supportive), mode of inheritance: AD
• progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 (Definitive), mode of inheritance: AD
• progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 (Strong), mode of inheritance: AD
• mitochondrial DNA depletion syndrome 4a (Strong), mode of inheritance: AR
• Leigh syndrome (Limited), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Mitochondrial DNA depletion syndrome 4B; Sensory ataxia, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4A (Alpers type); Alpers syndrome; POLG-related ataxia neuropathy spectrum disorders	AD/AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Audiologic/Otolaryngologic; Biochemical; Craniofacial; Gastrointestinal; Musculoskeletal; Neurologic	14851183; 14467368; 2725645; 13971413; 6033104; 4647849; 1252162; 2246481; 2067633; 8368248; 7897414; 9894877; 11431686; 11571332; 12210792; 12297582; 12825077; 15351195; 15534189; 15122711; 15477547; 15929042; 15689359; 16177225; 16130100; 16634032; 17502560; 6957900; 18487244; 18195149; 19307547; 19752458; 20301791; 20558295; 20837861; 20837862; 20142534; 20220442; 21357833; 21670405
Conditions can include cardiomyopathy; Hepatotoxic medications should be avoided

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the POLG gene.

• Progressive sclerosing poliodystrophy (2053 variants)
• not provided (851 variants)
• not specified (265 variants)
• Inborn genetic diseases (205 variants)
• POLG-Related Spectrum Disorders (138 variants)
• 6 conditions (94 variants)
• Hereditary spastic paraplegia (63 variants)
• Fanconi anemia (42 variants)
• Mitochondrial disease (40 variants)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 (29 variants)
• POLG-related condition (29 variants)
• Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (24 variants)
• Fanconi anemia complementation group I (23 variants)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 (22 variants)
• Mitochondrial DNA depletion syndrome 4b (20 variants)
• POLG-related disorders (14 variants)
• Tip-toe gait (11 variants)
• Mitochondrial DNA depletion syndrome (7 variants)
• Mitochondrial DNA depletion syndrome 4b;Progressive sclerosing poliodystrophy (6 variants)
• Intellectual disability (6 variants)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1;Progressive sclerosing poliodystrophy;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Mitochondrial DNA depletion syndrome 4b (5 variants)
• See cases (3 variants)
• Spinocerebellar ataxia with epilepsy (3 variants)
• Mitochondrial DNA depletion syndrome 4b;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1;Progressive sclerosing poliodystrophy (3 variants)
• Mitochondrial DNA depletion syndrome 4b;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1;Progressive sclerosing poliodystrophy (3 variants)
• Juvenile myopathy, encephalopathy, lactic acidosis AND stroke (3 variants)
• Global developmental delay (3 variants)
• Abnormality of the nervous system (3 variants)
• Mitochondrial DNA depletion syndrome 1 (3 variants)
• Progressive sclerosing poliodystrophy;Mitochondrial DNA depletion syndrome 4b (3 variants)
• Primary progressive multiple sclerosis;Mitochondrial DNA depletion syndrome (2 variants)
• Mitochondrial DNA depletion syndrome 4b;Progressive sclerosing poliodystrophy;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (2 variants)
• - (2 variants)
• Hypertrophic cardiomyopathy (2 variants)
• Childhood myocerebrohepatopathy spectrum (2 variants)
• Progressive sclerosing poliodystrophy;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1;Mitochondrial DNA depletion syndrome 4b (2 variants)
• Neurodevelopmental delay (2 variants)
• Stroke disorder (2 variants)
• Seizure;Intellectual disability (2 variants)
• Progressive sclerosing poliodystrophy;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Mitochondrial DNA depletion syndrome 4b (1 variants)
• Polyneuropathy (1 variants)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1;Mitochondrial DNA depletion syndrome 4b;Progressive sclerosing poliodystrophy;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (1 variants)
• Lennox-Gastaut syndrome (1 variants)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1;Progressive sclerosing poliodystrophy;Mitochondrial DNA depletion syndrome 4b;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (1 variants)
• Progressive sclerosing poliodystrophy;Mitochondrial DNA depletion syndrome 4b;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (1 variants)
• Generalized epilepsy;Global developmental delay;Obesity (1 variants)
• 11 conditions (1 variants)
• Spinocerebellar ataxia with epilepsy;Progressive sclerosing poliodystrophy;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (1 variants)
• Association with valproate-induced liver toxicity (1 variants)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1;Mitochondrial DNA depletion syndrome 4b (1 variants)
• Progressive sclerosing poliodystrophy;Mitochondrial DNA depletion syndrome 4b;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 (1 variants)
• Vascular dementia (1 variants)
• Premature ovarian failure (1 variants)
• Seizure;Autism (1 variants)
• Alpers-like hepatocerebral syndrome (1 variants)
• Abnormality of the mitochondrion (1 variants)
• EEG abnormality (1 variants)
• Mitochondrial neurogastrointestinal encephalomyopathy (1 variants)
• mitochondrial hepatopathy (1 variants)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic (1 variants)
• Abnormality of corpus callosum (1 variants)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1;Mitochondrial DNA depletion syndrome 4b;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Progressive sclerosing poliodystrophy (1 variants)
• Progressive sclerosing poliodystrophy;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1;Mitochondrial DNA depletion syndrome 4b;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 (1 variants)
• Idiopathic camptocormia (1 variants)
• Spinocerebellar atrophy (1 variants)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1;Progressive sclerosing poliodystrophy;Spinocerebellar ataxia with epilepsy (1 variants)
• Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Progressive sclerosing poliodystrophy;Mitochondrial DNA depletion syndrome 4b;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 (1 variants)
• Progressive sclerosing poliodystrophy;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Mitochondrial DNA depletion syndrome 4b;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 (1 variants)
• neonatal seizures (1 variants)
• Mitochondrial DNA depletion syndrome 4b;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1;Progressive sclerosing poliodystrophy (1 variants)
• Early-onset Parkinson disease 20 (1 variants)
• Charcot-Marie-Tooth disease axonal type 2U (1 variants)
• Mitochondrial DNA depletion syndrome 4b;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1;Progressive sclerosing poliodystrophy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the POLG gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous		1	29	395	3	428
missense	25	71	922	15	5	1038
nonsense	36	18	4			58
start loss			2			2
frameshift	48	37	6			91
inframe indel	1	1	53	18	1	74
splice donor/acceptor (+/-2bp)	10	24	1			35
splice region	2	2	41	63		108
non coding		1	51	300	61	413
Total	120	153	1068	728	70

Highest pathogenic variant AF is 0.000656

Variants in POLG

This is a list of pathogenic ClinVar variants found in the POLG region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
15-89305202-T-A		Fanconi anemia	Pathogenic (Aug 24, 2023)
15-89305202-TG-T		Fanconi anemia complementation group I • Fanconi anemia	Pathogenic/Likely pathogenic (Nov 25, 2023)
15-89305203-G-A		Fanconi anemia	Likely benign (Jan 15, 2024)
15-89305203-G-T		Fanconi anemia	Uncertain significance (Aug 03, 2022)
15-89305206-C-T		Fanconi anemia	Likely benign (Jan 09, 2024)
15-89305213-A-G		Fanconi anemia	Uncertain significance (Nov 15, 2022)
15-89305217-A-G		Fanconi anemia	Uncertain significance (Nov 09, 2023)
15-89305218-C-T		Fanconi anemia complementation group I • Fanconi anemia	Conflicting classifications of pathogenicity (Sep 10, 2023)
15-89305219-G-A		Fanconi anemia	Uncertain significance (Jul 03, 2022)
15-89305221-G-A		Fanconi anemia	Likely benign (Jan 27, 2022)
15-89305222-C-A		Fanconi anemia	Uncertain significance (Mar 07, 2022)
15-89305224-T-A		Fanconi anemia	Uncertain significance (Sep 03, 2023)
15-89305227-G-A		Fanconi anemia	Likely benign (Mar 17, 2023)
15-89305228-G-A		Fanconi anemia	Uncertain significance (Aug 09, 2022)
15-89305235-T-C		Fanconi anemia	Uncertain significance (Aug 23, 2022)
15-89305239-C-T		Fanconi anemia	Likely benign (Aug 28, 2023)
15-89305240-C-T		Fanconi anemia • Fanconi anemia complementation group I	Pathogenic (Jan 07, 2024)
15-89305245-A-G		Fanconi anemia	Uncertain significance (Aug 16, 2022)
15-89305248-A-G		Fanconi anemia	Uncertain significance (Sep 20, 2020)
15-89305249-T-TG		not specified • Fanconi anemia	Conflicting classifications of pathogenicity (Dec 06, 2023)
15-89305252-T-C		Fanconi anemia	Likely benign (Jul 22, 2022)
15-89305256-C-T		Fanconi anemia	Likely benign (Jul 20, 2023)
15-89305323-C-G		Fanconi anemia	Likely benign (Dec 14, 2022)
15-89305325-C-T		Fanconi anemia	Likely benign (Nov 13, 2023)
15-89305327-C-A		Fanconi anemia	Likely benign (Sep 08, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
POLG	protein_coding	protein_coding	ENST00000268124	22	18559

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.08e-9	1.00	125692	0	56	125748	0.000223

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.742	770	714	1.08	0.0000468	7999
Missense in Polyphen		310	329.51	0.94078		3713
Synonymous	-1.77	331	292	1.13	0.0000196	2444
Loss of Function	4.54	27	67.1	0.402	0.00000343	715

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000755	0.000753
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.000109	0.000109
Finnish	0.000142	0.000139
European (Non-Finnish)	0.000204	0.000202
Middle Eastern	0.000109	0.000109
South Asian	0.000294	0.000294
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in the replication of mitochondrial DNA. Associates with mitochondrial DNA.
• Disease: DISEASE: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1) [MIM:157640]: A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. {ECO:0000269|PubMed:11897778, ECO:0000269|PubMed:12210792, ECO:0000269|PubMed:15351195, ECO:0000269|PubMed:15534189, ECO:0000269|PubMed:17420318, ECO:0000269|PubMed:17846414, ECO:0000269|PubMed:18575922}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]: A severe form of progressive external ophthalmoplegia, a disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. It is clinically more heterogeneous than the autosomal dominant forms. {ECO:0000269|PubMed:11431686, ECO:0000269|PubMed:12565911, ECO:0000269|PubMed:12707443, ECO:0000269|PubMed:12872260, ECO:0000269|PubMed:12975295, ECO:0000269|PubMed:14635118, ECO:0000269|PubMed:15349879, ECO:0000269|PubMed:15351195, ECO:0000269|PubMed:15477547, ECO:0000269|PubMed:15917273, ECO:0000269|PubMed:16401742, ECO:0000269|PubMed:16621917, ECO:0000269|PubMed:16634032, ECO:0000269|PubMed:16639411}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]: A systemic disorder resulting from mitochondrial dysfunction associated with mitochondrial depletion in skeletal muscle and peripheral nerve tissue. The clinical triad of symptoms consists of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. However, the phenotype varies widely, even within the same family, and can also include myopathy, seizures, and hearing loss. {ECO:0000269|PubMed:12565911, ECO:0000269|PubMed:14745080, ECO:0000269|PubMed:15477547, ECO:0000269|PubMed:15824347, ECO:0000269|PubMed:15917273, ECO:0000269|PubMed:16080118, ECO:0000269|PubMed:16621917, ECO:0000269|PubMed:16639411, ECO:0000269|PubMed:16919951}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700]: An autosomal recessive hepatocerebral syndrome due to mitochondrial dysfunction. The typical course of the disease includes severe developmental delay, intractable seizures, liver failure, and death in childhood. Refractory seizures, cortical blindness, progressive liver dysfunction, and acute liver failure after exposure to valproic acid are considered diagnostic features. The neuropathological hallmarks are neuronal loss, spongiform degeneration, and astrocytosis of the visual cortex. Liver biopsy results show steatosis, often progressing to cirrhosis. {ECO:0000269|PubMed:15122711, ECO:0000269|PubMed:15689359, ECO:0000269|PubMed:15929042, ECO:0000269|PubMed:16621917, ECO:0000269|PubMed:16639411, ECO:0000269|PubMed:18828154}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Mitochondrial DNA depletion syndrome 4B (MTDPS4B) [MIM:613662]: An autosomal recessive progressive multisystem disorder due to mitochondrial dysfunction. It is clinically characterized by chronic gastrointestinal dysmotility and pseudo- obstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness. {ECO:0000269|PubMed:12825077, ECO:0000269|PubMed:19307547}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. {ECO:0000269|PubMed:18828154}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Spinocerebellar ataxia with epilepsy (SCAE) [MIM:607459]: An autosomal recessive syndrome characterized by headaches and/or seizures manifesting in childhood or adolescence, cerebellar and sensory ataxia, dysarthria, and myoclonus manifesting in early adulthood. Neuropathological findings include spinocerebellar degeneration associated with cortical neuronal degeneration in advanced cases. {ECO:0000269|PubMed:26942291}. Note=The disease is caused by mutations affecting the gene represented in this entry.
• Pathway: Nucleotide Metabolism;Purine metabolism;Pyrimidine metabolism (Consensus)

Recessive Scores

• pRec: 0.342

Intolerance Scores

• loftool: 0.0147
• rvis_EVS: -0.03
• rvis_percentile_EVS: 50.58

Haploinsufficiency Scores

• pHI: 0.238
• hipred: N
• hipred_score: 0.476
• ghis: 0.538

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.656

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Polg
• Phenotype: endocrine/exocrine gland phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; cellular phenotype; homeostasis/metabolism phenotype; hearing/vestibular/ear phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); muscle phenotype; digestive/alimentary phenotype; neoplasm; pigmentation phenotype; reproductive system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); embryo phenotype; skeleton phenotype; immune system phenotype

Zebrafish Information Network

• Gene name: polg
• Affected structure: whole organism
• Phenotype tag: abnormal
• Phenotype quality: decreased life span

Gene ontology

• Biological process: DNA metabolic process;DNA-dependent DNA replication;mitochondrial DNA replication;base-excision repair, gap-filling;aging;response to light stimulus;response to gamma radiation;response to hyperoxia;cellular response to glucose stimulus;DNA biosynthetic process;nucleic acid phosphodiester bond hydrolysis
• Cellular component: mitochondrion;gamma DNA polymerase complex;protein-containing complex;mitochondrial nucleoid;terminal bouton
• Molecular function: protease binding;DNA binding;chromatin binding;DNA-directed DNA polymerase activity;protein binding;3'-5' exonuclease activity