Disease-gene associations mined from literature

Literature associating HS2ST1 and overhydrated hereditary stomatocytosis

HS2ST1 [ENSP00000359581]

Heparan sulfate 2-O-sulfotransferase 1; 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); Sulfotransferases, membrane bound

Synonyms:  HS2ST1,  HS2ST1p,  hHS2ST1,  K7EP71,  Q7LGA3 ...

Linkouts:  STRING  Pharos  UniProt #1 #2  OMIM