| Entrez Gene ID | 9394 |
|---|---|
| Official Gene Symbol | HS6ST1 (GeneCards) |
| Full name | heparan sulfate 6-O-sulfotransferase 1 |
| Location | 2q14.3 |
| Other ids | Vega : OTTHUMG00000153542 MIM : 604846 HGNC : HGNC:5201 Ensembl : ENSG00000136720 |
| Other names | HH15, HS6ST |
| Summary | The protein encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biological activities. This enzyme is a type II integral membrane protein and is responsible for 6-O-sulfation of heparan sulfate. This enzyme does not share significant sequence similarity with other known sulfotransferases. A pseudogene located on chromosome 1 has been found for this gene. [provided by RefSeq, Jul 2008] |
Found 4 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 3045 | 9394 | HS6ST1 | 2 | 129452654 | 129452654 | Asymptomatic | HiSeq X Ten |
| 3448 | 9394 | HS6ST1 | 2 | 129598517 | 129598517 | Asymptomatic | HiSeq X Ten |
| 4356 | 9394 | HS6ST1 | 2 | 129455112 | 129455112 | Cockayne syndrome | HiSeq X Ten |
| 24918 | 9394 | HS6ST1 | 2 | 129296550 | 129296550 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |