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]
Immunogen
A synthetic peptide corresponding to a sequence within amino acids 1140-1239 of human DNA Polymerase gamma (P54098).
PBS with 0.02% sodium azide,0.05% BSA,50% glycerol,pH7.3.
Application
WB
Storage Class
10 - Combustible liquids
wgk_germany
WGK 1
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