dentate gyrus of hippocampal formation granule cell
superior frontal gyrus
epiblast
thymus
muscle of thigh
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
protein binding
transferase activity
3'-5' exonuclease activity
nucleotidyltransferase activity
chromatin binding
protease binding
DNA binding
DNA-directed DNA polymerase activity
Cellular component
terminal bouton
gamma DNA polymerase complex
mitochondrial nucleoid
mitochondrion
protein-containing complex
Biological process
DNA replication
response to gamma radiation
cellular response to glucose stimulus
DNA metabolic process
response to light stimulus
DNA-dependent DNA replication
human ageing
response to hyperoxia
base-excision repair, gap-filling
nucleic acid phosphodiester bond hydrolysis
DNA biosynthetic process
mitochondrial DNA replication
Sources:Amigo / QuickGO
Orthologs
Species
Human
Mouse
Entrez
5428
18975
Ensembl
ENSG00000140521
ENSMUSG00000039176
UniProt
P54098
P54099
RefSeq (mRNA)
NM_002693 NM_001126131
NM_017462 NM_001360095 NM_001360096
RefSeq (protein)
NP_001119603 NP_002684
n/a
Location (UCSC)
Chr 15: 89.31 – 89.33 Mb
Chr 7: 79.1 – 79.12 Mb
PubMed search
[3]
[4]
Wikidata
View/Edit Human
View/Edit Mouse
DNA polymerase subunit gamma (POLG or POLG1) is an enzyme that in humans is encoded by the POLG gene.[5] Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE).[6]
^ abcGRCh38: Ensembl release 89: ENSG00000140521 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000039176 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Zullo SJ, Butler L, Zahorchak RJ, Macville M, Wilkes C, Merril CR (Mar 1998). "Localization by fluorescence in situ hybridization (FISH) of human mitochondrial polymerase gamma (POLG) to human chromosome band 15q24→q26, and of mouse mitochondrial polymerase gamma (Polg) to mouse chromosome band 7E, with confirmation by direct sequence analysis of bacterial artificial chromosomes (BACs)". Cytogenetics and Cell Genetics. 78 (3–4): 281–4. doi:10.1159/000134672. PMID 9465903.
^Cite error: The named reference :1 was invoked but never defined (see the help page).
DNA polymerase subunit gamma (POLG or POLG1) is an enzyme that in humans is encoded by the POLG gene. Mitochondrial DNA polymerase is heterotrimeric,...
feet, and problems with their corneas. In MDDS associated with mutations in POLG that primarily affect the brain and the liver, the symptoms are very diverse...
X-linked recessive also exist. A nuclear DNA example is a mutation within the POLG (polymerase gamma) gene, which causes mitochondrial DNA (mtDNA) to become...
complex which is composed of a 140 kDa catalytic DNA polymerase encoded by the POLG gene and two 55 kDa accessory subunits encoded by the POLG2 gene. The replisome...
(theta), and Pol ν (nu) are Family A polymerases. Pol γ, encoded by the POLG gene, was long thought to be the only mitochondrial polymerase. However,...
called MNGIE without leukoencephalopathy, can be caused by mutations in the POLG gene. Like other mitochrondrial diseases, MNGIE is a multisystem disorder...
[citation needed] The Mitochondrial DNA Polymerase (Pol gamma, encoded by the POLG gene) is used in the copying of mtDNA during replication. Because the two...
km2 Governing body Senate of Bremen Constituting instrument Polizeigesetz (PolG) General nature Civilian police Operational structure Headquarters Bremen...
tolerance to the catalytic subunit of DNA polymerase gamma, encoded by the POLG gene. Mutations in this gene result in autosomal dominant progressive external...
and recessive forms of PEO can be caused by genetic mutations in the ANT1, POLG, POLG2 and PEO1 genes. It is important to differentiate CPEO from other pathologies...
Kellis M (March 2020). "Evidence for a novel overlapping coding sequence in POLG initiated at a CUG start codon". BMC Genetics. 21 (1): 25. doi:10.1186/s12863-020-0828-7...
on Clinical and molecular studies of Mitochondrial DNA polymerase gamma (POLG) associated disease. Tzoulis is professor in neurology and neurogenetics...
suppressor gene) mediated pathway and/or inefficient enzyme activity due to POLG mutations. Any increase/decrease in copy number then remains constant within...
"In vivo functional analysis of the human mitochondrial DNA polymerase POLG expressed in cultured human cells". The Journal of Biological Chemistry....
nervous system. Mutations in subunit of the mitochondrial DNA polymerase (POLG) have been found to be a potential cause of autosomal recessive cerebellar...
Global Information
