EZHIP - Gene Detail
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| Gene Symbol | EZHIP | ||||||||||||
| Synonyms | CATACOMB | CXorf67 | KIP75 | ||||||||||||
| Gene Description | EZHIP, EZH inhibitory protein, is a negative regulator of the Polycomb Repressive Complex 2 (PRC2) that modulates chromatin methylation and gene expression (PMID: 31086175, PMID: 31451685), and is involved in embryonic development (PMID: 41535302), DNA damage response (PMID: 33186520), and neuronal transcription programming (PMID: 41204377). A recurrent MBTD1-EZHIP fusion has been identified in endometrial stromal sarcoma (PMID: 23959973), an EWSR1-EZHIP fusion has been identified in astroblastoma (PMID: 36624615), and overexpression of Ezhip has been identified in posterior fossa ependymomas, H3K27 wild-type diffuse midline gliomas (PMID: 33153494), and Merkel cell carcinoma (PMID: 37037414). | ||||||||||||
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