EZH1 Chromosome 17
Enhancer of zeste 1 polycomb repressive complex 2 subunit
Upload your DNA to see your personal genotypes for variants in EZH1.
What This Gene Does
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 [PubMed 19026780]).[supplied by OMIM, Mar 2009]
Gene Info
Gene Group
"Histone lysine methyltransferases|Myb/SANT domain containing|Polycomb repressive complex 2|SET domain containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
17q21.2
Ensembl
ENSG00000108799
Associated Conditions (2)
EZH1-neurodevelopmental syndrome
EZH1-related disorder
Key Variants
RS2543817586
Likely pathogenic
EZH1-neurodevelopmental syndrome, EZH1-neurodevelopmental syndrome
Health Risk
RS2543843968
Likely pathogenic
EZH1-neurodevelopmental syndrome, EZH1-neurodevelopmental syndrome
Health Risk
RS2543869284
Likely pathogenic
EZH1-neurodevelopmental syndrome, EZH1-neurodevelopmental syndrome
Health Risk
RS2053293877
Pathogenic/Likely pathogenic
EZH1-related disorder, EZH1-neurodevelopmental syndrome, EZH1-related disorder
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2543817586 | Health Risk | Likely pathogenic | EZH1-neurodevelopmental syndrome, EZH1-neurodevelopmental syndrome |
| RS2543843968 | Health Risk | Likely pathogenic | EZH1-neurodevelopmental syndrome, EZH1-neurodevelopmental syndrome |
| RS2543869284 | Health Risk | Likely pathogenic | EZH1-neurodevelopmental syndrome, EZH1-neurodevelopmental syndrome |
| RS2053293877 | Health Risk | Pathogenic/Likely pathogenic | EZH1-related disorder, EZH1-neurodevelopmental syndrome, EZH1-related disorder |