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Gene Symbol POLG
Synonyms MDP1 | MIRAS | MTDPS4A | MTDPS4B | PEO | POLG1 | POLGA | SANDO | SCAE
Gene Description POLG, DNA polymerase gamma, catalytic subunit, encodes a mitochondrial DNA polymerase (PMID: 27814640), which is involved in the replication and repair of mitochondrial DNA (PMID: 27814640, PMID: 12673356), and plays an essential role in embryogenesis (PMID: 15888483). POLG1 mutations have been identified in breast cancer (PMID: 19629138), and a fusion with NTRK3 has been identified in gastrointestinal tumors (PMID: 33148671).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
5428 15 15q26.1 NM_001126131 Tumor suppressor (PMID: 30606230)
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