| Entrez Gene ID |
5428 |
| Official Gene Symbol |
POLG (GeneCards) |
| Full name |
DNA polymerase gamma, catalytic subunit |
| Location |
15q26.1 |
| Other ids |
Vega : OTTHUMG00000149646
MIM : 174763
HGNC : HGNC:9179
Ensembl : ENSG00000140521
|
| Other names |
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] |