Aliases for HS2ST1 Gene
External Ids for HS2ST1 Gene
Previous GeneCards Identifiers for HS2ST1 Gene
Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. This gene encodes a member of the heparan sulfate biosynthetic enzyme family that transfers sulfate to the 2 position of the iduronic acid residue of heparan sulfate. The disruption of this gene resulted in no kidney formation in knockout embryonic mice, indicating that the absence of this enzyme may interfere with the signaling required for kidney formation. Two alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Aug 2008]
GeneCards Summary for HS2ST1 Gene
HS2ST1 (Heparan Sulfate 2-O-Sulfotransferase 1) is a Protein Coding gene. Diseases associated with HS2ST1 include Spherocytosis, Type 2 and Renal Hypodysplasia/Aplasia 1. Among its related pathways are Glycosaminoglycan metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include sulfotransferase activity and galactosylceramide sulfotransferase activity. An important paralog of this gene is ENSG00000267561.
UniProtKB/Swiss-Prot for HS2ST1 Gene
Catalyzes the transfer of sulfate to the C2-position of selected hexuronic acid residues within the maturing heparan sulfate (HS). 2-O-sulfation within HS, particularly of iduronate residues, is essential for HS to participate in a variety of high-affinity ligand-binding interactions and signaling processes. Mediates 2-O-sulfation of both L-iduronyl and D-glucuronyl residues (By similarity).