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Positive Samples: HT-29, 293T, Mouse testis, Mouse brain, Rat liver, Rat testis
Immunogen sequence: LVREEDRYRA ALALQITNLL TRCMFAYKLG LNDLPQSVAF FSAVDIDRCL RKEVTMDCKT PSNPTGMERR YGIPQGEALD IYQIIELTKG SLEKRSQPGP
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 3'-5' exodeoxyribonuclease; 5'-deoxyribose-phosphate lyase; DNA polymerase gamma; DNA polymerase gamma subunit 1 (Mitochondrial DNA polymerase catalytic subunit) (PolG-alpha); DNA polymerase subunit gamma-1; DNA-directed DNA polymerase gamma; FLJ27114; Mitochondrial DNA polymerase catalytic subunit; mitochondrial DNA polymerase gamma; mitochondrial DNA polymerase gamma catalytic subunit; mitochondrial DNA polymerase-gamma; mitochondrial polymerase gamma; Pol gamma; PolG-alpha; polymerase (DNA directed), gamma; polymerase (DNA) gamma, catalytic subunit; polymerase, gamma; truncated mitochondrial DNA polymerase gamma catalytic subunit
基因别名: AA409516; MDP1; Mip1; MIRAS; MTDPS4A; MTDPS4B; PEO; POLG; POLG1; POLGA; SANDO; SCAE
UniProt ID: (Human) P54098, (Rat) Q9QYV8
Entrez Gene ID: (Human) 5428, (Mouse) 18975, (Rat) 85472