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Proteintech
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Sequence of this protein is as follows: GADVDSQELW IAAVLGDAHF AGMHGCTAFG WMTLQGRKSR GTDLHSKTAT TVGISREHAK IFNYGRIYGA GQPFAERLLM QFNHRLTQQE AAEKAQQMYA ATKGLRWYRL SDEGEWLVRE LNLPVDRTEG GWISLQDLRK VQRETARKSQ WKKWEVVAER AWKGGTESEM FNKLESIATS DIPRTPVLGC CISRALEPSA VQEEFMTSRV NWVVQSSAVD YLHLMLVAMK WLFEEFAIDG RFCISIHDEV RYLVREEDRY RAALALQITN LLTRCMFAYK LGLNDLPQSV AFFSAVDIDR CLRKEVTMDC KTPSNPTGME RRYGIPQGEA LDIYQIIELT KGSLEKRSQP GP
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 subunit gamma-1; FLJ27114; Mitochondrial DNA polymerase catalytic subunit; mitochondrial DNA polymerase gamma catalytic subunit; PolG-alpha; polymerase (DNA directed), gamma; polymerase (DNA) gamma, catalytic subunit; truncated mitochondrial DNA polymerase gamma catalytic subunit
基因别名: MDP1; MIRAS; MTDPS4A; MTDPS4B; PEO; POLG; POLG1; POLGA; SANDO; SCAE
UniProt ID: (Human) P54098
Entrez Gene ID: (Human) 5428