| Entrez Gene ID | 2145 |
|---|---|
| Official Gene Symbol | EZH1 (GeneCards) |
| Full name | enhancer of zeste 1 polycomb repressive complex 2 subunit |
| Location | 17q21.2 |
| Other ids | Vega : OTTHUMG00000180645 MIM : 601674 HGNC : HGNC:3526 Ensembl : ENSG00000108799 |
| Other names | KMT6B |
| Summary | 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] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1129 | 2145 | EZH1 | 17 | 40865232 | 40865232 | Human Skin Fibroblasts | HiSeq 2500 |