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MGP004488

Record overview

MGPD IDMGP004488
Gene ID11232
SpeciesHomo sapiens (Human)
Gene Namepolymerase (DNA directed), gamma 2, accessory subunit
Gene Symbol POLG2
SynonymsHP55; POLB; PEOA4; POLGB; MTPOLB; POLG-BETA;
Alternate namesDNA polymerase subunit gamma-2, mitochondrial; DNA polymerase gamma accessory 55 kDa subunit; mitochondrial DNA polymerase accessory subunit; mitochondrial DNA polymerase subunit gamma-2; mitochondrial DNA polymerase, accessory subunit; p55;
Chromosome17
Map Location17q
EC Number2.7.7.7
SummaryThis gene encodes the processivity subunit of the mitochondrial DNA polymerase gamma. The encoded protein forms a heterotrimer containing one catalytic subunit and two processivity subunits. This protein enhances DNA binding and promotes processive DNA synthesis. Mutations in this gene result in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions.[provided by RefSeq, Sep 2009]
OrthologsView orthologs and multiple alignments for POLG2

Proteins

DNA polymerase subunit gamma-2, mitochondrial
Refseq ID:NP_009146
Protein GI:70887790
UniProt ID:Q9UHN1
mRNA ID:NM_007215
Length:485
RefSeq Status:
MRSRVAVRACHKVCRCLLSGFGGRVDAGQPELLTERSSPKGGHVKSHAELEGNGEHPEAPGSGEGSEALLEICQRRHFLSGSKQQLSRDSLLSGCHPGFG
PLGVELRKNLAAEWWTSVVVFREQVFPVDALHHKPGPLLPGDSAFRLVSAETLREILQDKELSKEQLVAFLENVLKTSGKLRENLLHGALEHYVNCLDLV
NKRLPYGLAQIGVCFHPVFDTKQIRNGVKSIGEKTEASLVWFTPPRTSNQWLDFWLRHRLQWWRKFAMSPSNFSSSDCQDEEGRKGNKLYYNFPWGKELI
ETLWNLGDHELLHMYPGNVSKLHGRDGRKNVVPCVLSVNGDLDRGMLAYLYDSFQLTENSFTRKKNLHRKVLKLHPCLAPIKVALDVGRGPTLELRQVCQ
GLFNELLENGISVWPGYLETMQSSLEQLYSKYDEMSILFTVLVTETTLENGLIHLRSRDTTMKEMMHISKLKDFLIKYISSAKNV
 
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