{"symbol":"POLG","synonyms":["MTDPS4A","SANDO","MTDPS4B","MIRAS","MDP1","POLGA","POLG1","PEO","SCAE"],"name":"polymerase (DNA directed), gamma","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]","ncbiEntrezGeneId":5428,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/5428","proteins":[{"symbol":"DPOG1_HUMAN","href":"/api/1.0/protein/DPOG1_HUMAN"}],"hgncRootFamilies":[{"name":"Polymerases, DNA-directed (POL)","href":"/api/1.0/gene_family/Polymerases%2C+DNA-directed+%28POL%29"}]}