Welcome to CKB CORE's new home! Please be sure to update any bookmarks you may have.
×

Gene Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

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).
Additional content available in CKB BOOST