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Gene Symbol SETDB1
Synonyms ESET | H3-K9-HMTase4 | KG1T | KMT1E | TDRD21
Gene Description SETDB1, SET domain bifurcated histone lysine methyltransferase 1, is a histone methyltransferase that regulates chromatin structure through methylation of H3K9 to repress gene transcription (PMID: 27732843, PMID: 28887438), and has a role in maintaining stem cell pluripotency (PMID: 19884255). Amplification of SETDB1 has been observed in a variety of cancers (PMID: 27732843), including lung (PMID: 23770855), breast (PMID: 25537518), and melanoma (PMID: 31131878), and overexpression has been associated with poor prognosis in breast cancer (PMID: 32305991).
Additional content available in CKB BOOST