We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
Cancer tissues displayed weak to moderate cytoplasmic staining with additional membranous positivity in few cases. Lobular carcinomas of breast along with few cases of stomach, pancreatic, prostate, cervical, endometrial and testicular cancers were strongly stained. Majority of gliomas and skin cancers were negative.
GENE INFORMATION
Gene name
POLG (HGNC Symbol)
Synonyms
POLG1, POLGA
Description
Polymerase (DNA directed), gamma (HGNC Symbol)
Entrez gene 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]
Enzymes ENZYME proteins Transferases THUMBUP predicted membrane proteins Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Transferases THUMBUP predicted membrane proteins Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014)