GAL3ST1
galactose-3-O-sulfotransferase 1
Summary
Sulfonation, an important step in the metabolism of many drugs, xenobiotics, hormones, and neurotransmitters, is catalyzed by sulfotransferases. This gene encodes galactosylceramide sulfotransferase, which catalyzes the sulfation of membrane glycolipids including the final step in the synthesis of sulfatide, a major lipid component of the myelin sheath. This gene exhibits elevated expression in ovarian epithelial carcinoma and the encoded enzyme exhibits elevated activity in renal cell carcinoma. Mutations in this gene may be associated with reduced insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Known Variants20 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs764337612 | 22:30,951,048 | C/G | — | uncertain significance |
| rs369237221 | 22:30,951,049 | T/G | — | uncertain significance |
| rs146972531 | 22:30,951,162 | G/T | — | likely benign |
| rs150519649 | 22:30,951,193 | C/A | — | uncertain significance |
| rs1232709405 | 22:30,951,227 | G/C | — | uncertain significance |
| rs368393760 | 22:30,951,441 | C/G | — | uncertain significance |
| rs138102427 | 22:30,951,644 | C/T | — | uncertain significance |
| rs2517748532 | 22:30,951,673 | A/G | — | uncertain significance |
| rs2517748593 | 22:30,951,676 | G/A | — | uncertain significance |
| rs951711720 | 22:30,951,689 | G/T | — | uncertain significance |
| rs757856226 | 22:30,951,744 | G/C | — | uncertain significance |
| rs201414101 | 22:30,951,848 | C/A | — | uncertain significance |
| rs4149493 | 22:30,952,014 | G/C | — | uncertain significance |
| rs1299459103 | 22:30,953,262 | C/T | — | uncertain significance |
| rs2267161 | 22:30,953,295 | C/T | missense variant | benign |
| rs778200200 | 22:30,953,322 | C/T | — | uncertain significance |
| rs375791748 | 22:30,953,357 | G/A | — | uncertain significance |
| rs773993854 | 22:30,953,361 | T/G | — | uncertain significance |
| rs42929 | 22:30,956,419 | C/T | intron variant | — |
| rs138647649 | 22:30,963,992 | A/G | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.