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Gene id 2145
Gene Summary    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary

Gene Symbol EZH1   Gene   UCSC   Ensembl
Aliases KMT6B
Gene name enhancer of zeste 1 polycomb repressive complex 2 subunit
Alternate names histone-lysine N-methyltransferase EZH1, ENX-2, enhancer of zeste homolog 1,
Gene location 17q21.2 (42745077: 42700274)     Exons: 21     NC_000024.10
Gene summary(Entrez) EZH1 is a component of a noncanonical Polycomb repressive complex-2 (PRC2) that mediates methylation of histone H3 (see MIM 602812) lys27 (H3K27) and functions in the maintenance of embryonic stem cell pluripotency and plasticity (Shen et al., 2008 [PubMe
OMIM 601674

Protein Summary

Gene ontology

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GO accessionTerm nameEvidence codeGo category

KEGG pathways

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Pathway idPathway name
hsa01100Metabolic pathways
hsa00310Lysine degradation
Associated diseases References
Head and neck cancer GAD: 20819778
Meiotic arrest in spermatocytes MIK: 28254491
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Meiotic arrest in spermatocytes MIK: 28254491

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
28254491 Meiotic ar
rest in sp
ermatocyte
s


Male infertility
Show abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm

18
Male infertility GSE26881
Show abstract