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.