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Gene: POLG (DNA polymerase gamma, catalytic subunit) Homo sapiens
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Symbol: POLG
Name: DNA polymerase gamma, catalytic subunit
Description: 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. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. 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). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: dna polymerase gamma; DNA polymerase subunit gamma-1; FLJ27114; MDP1; MIRAS; mitochondrial DNA polymerase catalytic subunit; mitochondrial DNA polymerase gamma catalytic subunit; mitochondrial polymerase gamma catalytic subunit; MTDPS4A; MTDPS4B; PEO; PolG, catalytic subunit; PolG-alpha; POLG1; POLGA; polymerase (DNA directed), gamma; polymerase (DNA) gamma, catalytic subunit; SANDO; SCAE; truncated mitochondrial DNA polymerase gamma catalytic subunit; truncated mitochondrial polymerase gamma catalytic subunit
Orthologs:
Mus musculus (house mouse) : Polg (polymerase (DNA directed), gamma)  MGI  Alliance
Rattus norvegicus (Norway rat) : Polg (DNA polymerase gamma, catalytic subunit)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Polg (DNA polymerase gamma, catalytic subunit)
Pan paniscus (bonobo/pygmy chimpanzee) : POLG (DNA polymerase gamma, catalytic subunit)
Canis lupus familiaris (dog) : POLG (DNA polymerase gamma, catalytic subunit)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Polg (DNA polymerase gamma, catalytic subunit)
Sus scrofa (pig) : POLG (DNA polymerase gamma, catalytic subunit)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381589,316,305 - 89,334,795 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371589,859,536 - 89,878,026 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361587,660,554 - 87,679,030 (-)NCBINCBI36hg18NCBI36
Build 341587,660,552 - 87,679,030NCBI
Celera1566,260,895 - 66,279,201 (-)NCBI
Cytogenetic Map15q26.1NCBI
HuRef1565,971,419 - 65,989,730 (-)NCBIHuRef
CHM1_11589,700,576 - 89,719,066 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
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