Abbreviation: DNA Polymerase gamma
Target Synonym: POLG;MDP1;MIRAS;MTDPS4A;MTDPS4B;PEO;POLG1;POLGA;SANDO;SCAE
Conjugation: Unconjugated
UNIProt ID: P54098
Background: 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.
Concentration: 1mg/mL
Immunogen: Recombinant fusion protein of human DNA Polymerase gamma
Dilution: WB 1:500-1:2000
English
Deutsch
