EZH2 (Histone-lysine N-methyltransferase) is a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein associates with the embryonic ectoderm development protein, the VAV1 oncoprotein, and the X-linked nuclear protein. EZH2 may play a role in the hematopoietic and central nervous systems. Mutations affecting EZH2 can cause Weaver syndrome (WVS).
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Protein Aliases: an; Enhancer of zeste homolog 2; ENX 1; ENX-1; EZH 2; EZH-2; Histone-lysine N-methyltransferase EZH2; Lysine N-methyltransferase 6; OTTHUMP00000213774; OTTHUMP00000213778; OTTHUMP00000213779; OTTHUMP00000213780
Gene Aliases: ENX-1; ENX1; EZH1; EZH2; EZH2b; KMT6; KMT6A; WVS; WVS2
UniProt ID: (Human) Q15910
Entrez Gene ID: (Human) 2146
Molecular Function: histone modifying enzyme