MBTD1 - Gene Detail

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Gene Symbol MBTD1
Synonyms SA49P01
Gene Description MBTD1, mbt domain containing 1, is a polycomb group protein (PMID: 19841675) and component of the NuA4/TIP60 acetyltransferase complex, which plays a role in regulation of DNA repair (PMID: 27153538, PMID: 32209463), gene transcription, and cell growth (PMID: 32209463). MBTD1 fusions have been observed in endometrial stromal sarcoma (PMID: 32237188, PMID: 23959973), and a fusion between MBTD1 and ZMYND11 is recurrent in acute myeloid leukemia (PMID: 26608508, PMID: 23915195).
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