POLG, Official Symbol POLGprovided by HGNC Official Full Name DNA polymerase gamma, catalytic subunitprovided by HGNC Primary source HGNC:HGNC:9179 See related Ensembl:ENSG00000140521 MIM:174763; AllianceGenome:HGNC:9179 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PEO; MDP1; SCAE; MIRAS; POLG1; POLGA; SANDO; MTDPS4A; MTDPS4B Summary 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] Expression Ubiquitous expression in lymph node (RPKM 14.2), spleen (RPKM 13.3) and 25 other tissues See more Orthologs mouse all