DISEASES

Disease-gene associations mined from literature

Literature associating EZH1 and Weaver syndrome

EZH1 [ENSP00000404658]

Enhancer of zeste 1 polycomb repressive complex 2 subunit; Polycomb group (PcG) protein. Catalytic subunit of the PRC2/EED-EZH1 complex, which methylates 'Lys-27' of histone H3, leading to transcriptional repression of the affected target gene. Able to mono-, di- and trimethylate 'Lys-27' of histone H3 to form H3K27me1, H3K27me2 and H3K27me3, respectively. Required for embryonic stem cell derivation and self-renewal, suggesting that it is involved in safeguarding embryonic stem cell identity. Compared to EZH2-containing complexes, it is less abundant in embryonic stem cells, has weak methyltransferase activity and plays a less critical role in forming H3K27me3, which is required for embryonic stem cell identity and proper differentiation; Lysine methyltransferases

Synonyms:  EZH1,  EZH1p,  hEZH1,  EZH1-001,  EZH1-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM