HS6ST2 Chromosome X
Heparan sulfate 6-O-sulfotransferase 2
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What This Gene Does
Heparan sulfate proteoglycans are ubiquitous components of the cell surface, extracellular matrix, and basement membranes, and interact with various ligands to influence cell growth, differentiation, adhesion, and migration. This gene encodes a member of the heparan sulfate (HS) sulfotransferase gene family, which catalyze the transfer of sulfate to HS. Different family members and isoforms are thought to synthesize heparan sulfates with tissue-specific structures and functions. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Sulfotransferases, membrane bound
Locus Type
gene with protein product
Location
Xq26.2
Ensembl
ENSG00000171004
Associated Conditions (1)
Paganini-Miozzo syndrome
Key Variants
RS748100852
Conflicting classifications of pathogenicity
Paganini-Miozzo syndrome, Paganini-Miozzo syndrome
Health Risk
RS758915436
Conflicting classifications of pathogenicity
Health Risk
RS769385715
Conflicting classifications of pathogenicity
Health Risk
RS866919041
Pathogenic
Paganini-Miozzo syndrome, Paganini-Miozzo syndrome
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS748100852 | Health Risk | Conflicting classifications of pathogenicity | Paganini-Miozzo syndrome, Paganini-Miozzo syndrome |
| RS758915436 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS769385715 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS866919041 | Health Risk | Pathogenic | Paganini-Miozzo syndrome, Paganini-Miozzo syndrome |