| Entrez Gene ID | 80019 |
|---|---|
| Official Gene Symbol | UBTD1 (GeneCards) |
| Full name | ubiquitin domain containing 1 |
| Location | 10q24.1-q24.2 |
| Other ids | Vega : OTTHUMG00000018856 MIM : 616388 HGNC : HGNC:25683 Ensembl : ENSG00000165886 |
| Other names | None |
| Summary | The degradation of many proteins is carried out by the ubiquitin pathway in which proteins are targeted for degradation by covalent conjugation of the polypeptide ubiquitin. This gene encodes a protein that belongs to the ubiquitin family of proteins. The encoded protein is thought to regulate E2 ubiquitin conjugating enzymes belonging to the UBE2D family. [provided by RefSeq, Mar 2014] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 14767 | 80019 | UBTD1 | 10 | 99323766 | 99323766 | Cockayne syndrome | HiSeq X Ten |