HS6ST1 Chromosome 2
Heparan sulfate 6-O-sulfotransferase 1
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What This Gene Does
The protein encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biological activities. This enzyme is a type II integral membrane protein and is responsible for 6-O-sulfation of heparan sulfate. This enzyme does not share significant sequence similarity with other known sulfotransferases. A pseudogene located on chromosome 1 has been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Sulfotransferases, membrane bound
Locus Type
gene with protein product
Location
2q14.3
Ensembl
ENSG00000136720
Associated Conditions (2)
See cases
Hypogonadotropic hypogonadism 15 with anosmia
Key Variants
RS200268730
Conflicting classifications of pathogenicity
Health Risk
RS370255491
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS61732021
Conflicting classifications of pathogenicity
Health Risk
RS2104908342
risk factor
Hypogonadotropic hypogonadism 15 with anosmia, Hypogonadotropic hypogonadism 15 with anosmia
Health Risk
RS761325768
risk factor
Hypogonadotropic hypogonadism 15 with anosmia, Hypogonadotropic hypogonadism 15 with anosmia
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200268730 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS370255491 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS61732021 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2104908342 | Health Risk | risk factor | Hypogonadotropic hypogonadism 15 with anosmia, Hypogonadotropic hypogonadism 15 with anosmia |
| RS761325768 | Health Risk | risk factor | Hypogonadotropic hypogonadism 15 with anosmia, Hypogonadotropic hypogonadism 15 with anosmia |