STS Chromosome X
Steroid sulfatase
Upload your DNA to see your personal genotypes for variants in STS.
What This Gene Does
This gene encodes a multi-pass membrane protein that is localized to the endoplasmic reticulum. It belongs to the sulfatase family and hydrolyzes several 3-beta-hydroxysteroid sulfates, which serve as metabolic precursors for estrogens, androgens, and cholesterol. Mutations in this gene are associated with X-linked ichthyosis (XLI). Alternatively spliced transcript variants resulting from the use of different promoters have been described for this gene (PMID:17601726). [provided by RefSeq, Mar 2016]
Gene Info
Gene Group
"Sulfatases|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
Xp22.31
Ensembl
ENSG00000101846
Associated Conditions (3)
X-linked ichthyosis with steryl-sulfatase deficiency
Inborn genetic diseases
STS-related disorder
Key Variants
RS1064795456
Conflicting classifications of pathogenicity
Health Risk
RS1259321805
Conflicting classifications of pathogenicity
X-linked ichthyosis with steryl-sulfatase deficiency, X-linked ichthyosis with steryl-sulfatase deficiency
Health Risk
RS137853167
Conflicting classifications of pathogenicity
X-linked ichthyosis with steryl-sulfatase deficiency, X-linked ichthyosis with steryl-sulfatase deficiency
Health Risk
RS138646436
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146117456
Conflicting classifications of pathogenicity
Health Risk
RS148600708
Conflicting classifications of pathogenicity
Inborn genetic diseases, X-linked ichthyosis with steryl-sulfatase deficiency, Inborn genetic diseases
Health Risk
RS2147081459
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2518647074
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1555967260
Likely pathogenic
Health Risk
RS1927377513
Likely pathogenic
X-linked ichthyosis with steryl-sulfatase deficiency, X-linked ichthyosis with steryl-sulfatase deficiency
Health Risk
RS2147089236
Likely pathogenic
X-linked ichthyosis with steryl-sulfatase deficiency, X-linked ichthyosis with steryl-sulfatase deficiency
Health Risk
RS2518683298
Likely pathogenic
X-linked ichthyosis with steryl-sulfatase deficiency, X-linked ichthyosis with steryl-sulfatase deficiency
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1064795456 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1259321805 | Health Risk | Conflicting classifications of pathogenicity | X-linked ichthyosis with steryl-sulfatase deficiency, X-linked ichthyosis with steryl-sulfatase deficiency |
| RS137853167 | Health Risk | Conflicting classifications of pathogenicity | X-linked ichthyosis with steryl-sulfatase deficiency, X-linked ichthyosis with steryl-sulfatase deficiency |
| RS138646436 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS146117456 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148600708 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, X-linked ichthyosis with steryl-sulfatase deficiency, Inborn genetic diseases |
| RS2147081459 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2518647074 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1555967260 | Health Risk | Likely pathogenic | — |
| RS1927377513 | Health Risk | Likely pathogenic | X-linked ichthyosis with steryl-sulfatase deficiency, X-linked ichthyosis with steryl-sulfatase deficiency |
| RS2147089236 | Health Risk | Likely pathogenic | X-linked ichthyosis with steryl-sulfatase deficiency, X-linked ichthyosis with steryl-sulfatase deficiency |
| RS2518683298 | Health Risk | Likely pathogenic | X-linked ichthyosis with steryl-sulfatase deficiency, X-linked ichthyosis with steryl-sulfatase deficiency |
| RS2518726328 | Health Risk | Likely pathogenic | STS-related disorder, STS-related disorder |
| RS137853165 | Health Risk | Pathogenic | X-linked ichthyosis with steryl-sulfatase deficiency, X-linked ichthyosis with steryl-sulfatase deficiency |
| RS137853166 | Health Risk | Pathogenic | X-linked ichthyosis with steryl-sulfatase deficiency, X-linked ichthyosis with steryl-sulfatase deficiency |
| RS137853169 | Health Risk | Pathogenic | X-linked ichthyosis with steryl-sulfatase deficiency, X-linked ichthyosis with steryl-sulfatase deficiency |
| RS1463414987 | Health Risk | Pathogenic | X-linked ichthyosis with steryl-sulfatase deficiency, X-linked ichthyosis with steryl-sulfatase deficiency |
| RS1555956229 | Health Risk | Pathogenic | — |
| RS1601748137 | Health Risk | Pathogenic | X-linked ichthyosis with steryl-sulfatase deficiency, X-linked ichthyosis with steryl-sulfatase deficiency |