Heparan-sulfate 6-O-sulfotransferases 1 and 2 (HS3ST1-2) (H...

created [InstanceEdit:2076352] Jassal, B, 2012-01-27
dbId 2076373
displayName Heparan-sulfate 6-O-sulfotransferases 1 and 2 (HS3ST1-2) (H...
modified [InstanceEdit:9941068] Stephan, Ralf, 2025-03-07
schemaClass Summation
text Heparan-sulfate 6-O-sulfotransferases 1 and 2 (HS3ST1-2) (Habuchi et al. 1998, Habuchi et al. 2003 respectively) catalyze the transfer of sulfate to C6 of the N-sulfoglucosamine residue (GlcNS) of heparan sulfate. A third member HS3ST3 that may also mediate this reaction has been characterised in mouse (Habuchi et al. 2000) but remains uncharacterised in humans. It can be argued that this structure can now be called either heparan sulfate- or heparin-PG. Mutations in HS3ST1 can cause hypogonadotropic hypogonadism (HH13, MIM:614880; Tornberg et al., 2011). Mutations in HS6ST2 can cause the neurodevelopmental disorder named Paganini-Miozzo syndrome (MRXSPM, MIM:301025; Paganini et al., 2019).
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