| Entrez Gene ID | 347344 |
|---|---|
| Official Gene Symbol | ZNF81 (GeneCards) |
| Full name | zinc finger protein 81 |
| Location | Xp11.23 |
| Other ids | Vega : OTTHUMG00000021462 MIM : 314998 HGNC : HGNC:13156 Ensembl : ENSG00000197779 |
| Other names | HFZ20, MRX45, dJ54B20.6 |
| Summary | This gene encodes a protein that likely functions as a transcription factor. The protein contains an N-terminal KRAB domain and several C2H2-type zinc finger motifs. Mutations in this gene cause an X-linked form of intellectual disability (MRX45). Microduplication of a region of chromosome X including this gene has also been associated with other forms of intellectual disability. [provided by RefSeq, Jul 2017] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 22309 | 347344 | ZNF81 | X | 47790038 | 47790038 | Cockayne syndrome | HiSeq X Ten |