HS2ST1 Chromosome 1
Heparan sulfate 2-O-sulfotransferase 1
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What This Gene Does
Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. This gene encodes a member of the heparan sulfate biosynthetic enzyme family that transfers sulfate to the 2 position of the iduronic acid residue of heparan sulfate. The disruption of this gene resulted in no kidney formation in knockout embryonic mice, indicating that the absence of this enzyme may interfere with the signaling required for kidney formation. Two alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Aug 2008]
Gene Info
Gene Group
Sulfotransferases, membrane bound
Locus Type
gene with protein product
Location
1p22.3
Ensembl
ENSG00000153936
Associated Conditions (2)
NEUROFACIOSKELETAL SYNDROME WITHOUT RENAL AGENESIS
Neurofacioskeletal syndrome with or without renal agenesis
Key Variants
RS1651459410
Pathogenic
NEUROFACIOSKELETAL SYNDROME WITHOUT RENAL AGENESIS, NEUROFACIOSKELETAL SYNDROME WITHOUT RENAL AGENESIS
Health Risk
RS1651972168
Pathogenic
NEUROFACIOSKELETAL SYNDROME WITHOUT RENAL AGENESIS, NEUROFACIOSKELETAL SYNDROME WITHOUT RENAL AGENESIS
Health Risk
RS1651973144
Pathogenic
Neurofacioskeletal syndrome with or without renal agenesis, Neurofacioskeletal syndrome with or without renal agenesis
Health Risk
RS1660112720
Pathogenic
Neurofacioskeletal syndrome with or without renal agenesis, Neurofacioskeletal syndrome with or without renal agenesis
Health Risk
RS758990524
Pathogenic
Neurofacioskeletal syndrome with or without renal agenesis, Neurofacioskeletal syndrome with or without renal agenesis
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1651459410 | Health Risk | Pathogenic | NEUROFACIOSKELETAL SYNDROME WITHOUT RENAL AGENESIS, NEUROFACIOSKELETAL SYNDROME WITHOUT RENAL AGENESIS |
| RS1651972168 | Health Risk | Pathogenic | NEUROFACIOSKELETAL SYNDROME WITHOUT RENAL AGENESIS, NEUROFACIOSKELETAL SYNDROME WITHOUT RENAL AGENESIS |
| RS1651973144 | Health Risk | Pathogenic | Neurofacioskeletal syndrome with or without renal agenesis, Neurofacioskeletal syndrome with or without renal agenesis |
| RS1660112720 | Health Risk | Pathogenic | Neurofacioskeletal syndrome with or without renal agenesis, Neurofacioskeletal syndrome with or without renal agenesis |
| RS758990524 | Health Risk | Pathogenic | Neurofacioskeletal syndrome with or without renal agenesis, Neurofacioskeletal syndrome with or without renal agenesis |