| Entrez Gene ID | 56886 |
|---|---|
| Official Gene Symbol | UGGT1 (GeneCards) |
| Full name | UDP-glucose glycoprotein glucosyltransferase 1 |
| Location | 2q14.3 |
| Other ids | Vega : OTTHUMG00000131570 MIM : 605897 HGNC : HGNC:15663 Ensembl : ENSG00000136731 |
| Other names | UGT1, HUGT1, UGCGL1 |
| Summary | UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009] |
Found 2 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 887 | 56886 | UGGT1 | 2 | 128917234 | 128917234 | Human Skin Fibroblasts | HiSeq 2500 |
| 4468 | 56886 | UGGT1 | 2 | 128881859 | 128881859 | Xeroderma Pigmentosum | HiSeq 2500 HiSeq X Ten |