Mitochondrial DNA polymerase is heterotrimeric, consistingnof a homodimer of accessory subunits plus a catalytic subunit. Thenprotein encoded by this gene is the catalytic subunit ofnmitochondrial DNA polymerase. The encoded protein contains anpolyglutamine tract near its N-terminus that may be polymorphic.nDefects in this gene are a cause of progressive externalnophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensorynataxic neuropathy dysarthria and ophthalmoparesis (SANDO),nAlpers-Huttenlocher syndrome (AHS), and mitochondrialnneurogastrointestinal encephalopathy syndrome (MNGIE). Twontranscript variants encoding the same protein have been found fornthis gene.
应用类型
WB,IHC,ICC,FCM
免疫原
This POLG antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 1120-1148 amino acids from the C-terminal region of human POLG.
