Gene Detail


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Gene Symbol PHF1
Synonyms hPHF1 | MTF2L2 | PCL1 | PHF2 | TDRD19C
Gene Description PHF1, PHD finger protein 1, encodes a polycomb-like protein that is a key component of the polycomb repressive complex 2, thereby mediating transcriptional repression during embryonic development (PMID: 28869966, PMID: 32869745) and also plays a role in the DNA double-strand break response (PMID: 18385154) and regulating Tp53 protein stability (PMID: 23150668, PMID: 26494712). Decreased Phf1 expression has been identified in breast cancer (PMID: 23150668), and fusions involving PHF1 have been identified in endometrial stromal sarcoma (PMID: 16397222, PMID: 32237188, PMID: 33975123) and ossifying fibromyxoid tumors (PMID: 22796436, PMID: 24285434, PMID: 30920708).
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