DISEASES

Disease-gene associations mined from literature

Literature associating HS3ST3A1 and overhydrated hereditary stomatocytosis

HS3ST3A1 [ENSP00000284110]

Heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3A1; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to an N- unsubstituted glucosamine linked to a 2-O-sulfo iduronic acid unit on heparan sulfate. Catalyzes the O-sulfation of glucosamine in IdoUA2S-GlcNS and also in IdoUA2S-GlcNH2. The substrate-specific O-sulfation generates an enzyme-modified heparan sulfate which acts as a binding receptor to Herpes simplex virus-1 (HSV-1) and permits its entry. Unlike 3-OST-1, does not convert non- anticoagulant heparan sulfate to anticoagulant heparan sulfate.

Synonyms:  HS3ST3A1,  J3KSX5,  Q9Y663,  3OST3A1,  HS3ST3A ...

Linkouts:  STRING  Pharos  UniProt  OMIM