Entity Details

Primary name HS6ST1
Entity type gene
Source Source Link

Details

PrimaryID9394
RefseqGeneNG_032966
SymbolHS6ST1
Nameheparan sulfate 6-O-sulfotransferase 1
Chromosome2
Location2q14.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-12-06
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsH6ST1_HUMAN

GO terms

Show/Hide Table
GOName
GO:0000139 Golgi membrane
GO:0005887 integral component of plasma membrane
GO:0006024 glycosaminoglycan biosynthetic process
GO:0008146 sulfotransferase activity
GO:0015015 heparan sulfate proteoglycan biosynthetic process, enzymatic modification
GO:0017095 heparan sulfate 6-O-sulfotransferase activity
GO:0048666 neuron development

Diseases

Show/Hide Table
Disease IDSourceNameDescription
614880 OMIMHypogonadotropic hypogonadism 15 with or without anosmia (HH15)A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry.

Interactions

16 interactions