KEGG   VARIANT: 9394v1
Entry
9394v1                      Variant                                
Name
HS6ST1 mutation
Gene
HS6ST1  heparan sulfate 6-O-sulfotransferase 1 [KO:K02514]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604846
Network
nt06029  Glycosaminoglycan biosynthesis
Disease
H00255  Hypogonadotropic hypogonadism
Reference
  Authors
Tornberg J, Sykiotis GP, Keefe K, Plummer L, Hoang X, Hall JE, Quinton R, Seminara SB, Hughes V, Van Vliet G, Van Uum S, Crowley WF, Habuchi H, Kimata K, Pitteloud N, Bulow HE
  Title
Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism.
  Journal
Proc Natl Acad Sci U S A 108:11524-9 (2011)
DOI:10.1073/pnas.1102284108
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