STS Gene (Steroid Sulfatase)
Genetic and Functional Insights into Steroid Sulfatase Deficiency and X-Linked Ichthyosis
Gene Information Card
| Symbol | STS |
|---|---|
| Full Name | Steroid Sulfatase |
| Gene Type | Protein coding |
| Chromosomal Location | Xp22.31 |
| NCBI Gene ID | 412 ncbi.nlm.nih.gov/gene/412 |
| Ensembl ID | ENSG00000101846 |
| UniProt ID | P08842 |
| OMIM ID | 300747 |
| HGNC ID | 11425 |
| Aliases | ARSC, ARSC1, ASC, ES, SSDD, XLI |
Description
The STS gene encodes steroid sulfatase, a microsomal enzyme that hydrolyzes steroid sulfates, including dehydroepiandrosterone sulfate (DHEA-S) and estrone sulfate, to their unconjugated forms. This enzyme is critical for steroid hormone biosynthesis and metabolism. Deficiency of STS causes X-linked ichthyosis (XLI) and is associated with placental sulfatase deficiency. The gene is located on the X chromosome and escapes X-inactivation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked ichthyosis (XLI) | Loss-of-function mutations or deletions in STS lead to accumulation of cholesterol sulfate in the epidermis, causing abnormal desquamation and ichthyosis. | OMIM #308100; ClinVar; multiple case reports |
| Placental sulfatase deficiency | STS deficiency in the placenta results in low estrogen production during pregnancy, often leading to delayed labor and failure of cervical ripening. | OMIM #308100; clinical studies |
| Kallmann syndrome (rare association) | Contiguous gene deletions on Xp22.31 involving STS and adjacent genes (e.g., ANOS1) can cause hypogonadotropic hypogonadism with anosmia. | Case reports; OMIM #308700 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Placenta | 45.2 | High |
| Liver | 8.3 | Low |
| Adrenal gland | 6.1 | Low |
| Breast | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Keratinocytes | 15.2 | Primary skin cells; high expression |
| HepG2 | 2.1 | Hepatocellular carcinoma cell line; low expression |
| JEG-3 | 38.5 | Choriocarcinoma cell line; high expression |
| MCF-7 | 5.8 | Breast cancer cell line; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon; likely loss of function |
| c.253C>T (p.Arg85*) | Nonsense | <0.01% | Premature stop; loss of function |
| Complete gene deletion | Deletion | ~90% of XLI cases | Loss of entire STS gene; most common cause of XLI |
| c.1129C>T (p.Arg377Trp) | Missense | <0.01% | Reduced enzyme activity; partial loss of function |
Mutation functional classification
Loss of Function (LOF)
Most STS mutations (nonsense, frameshift, deletions) result in complete loss of enzyme activity, leading to X-linked ichthyosis.
Gain of Function (GOF)
No gain-of-function mutations have been reported for STS.
Dominant Negative (DN)
No dominant-negative mutations have been described; STS deficiency is recessive due to X-linked inheritance.
View complete mutation data：
Gene Ontology (GO)
| • sulfuric ester hydrolase activity (GO:0008484) | • steroid metabolic process (GO:0008202) |
| • steroid biosynthetic process (GO:0006694) | • integral component of membrane (GO:0016021) |
| • endoplasmic reticulum (GO:0005783) |
Pathways
• Steroid hormone biosynthesis (Reactome: R-HSA-196108)
• Metabolism of steroids (Reactome: R-HSA-8957322)
• Sulfate conjugation and desulfation (KEGG: map00920)
Protein Summary
Steroid sulfatase (STS) is a 62 kDa microsomal enzyme composed of 583 amino acids. It catalyzes the hydrolysis of aryl and alkyl steroid sulfates, converting inactive sulfated steroids into active hormones. The enzyme is a member of the sulfatase family and requires post-translational modification to form a formylglycine residue essential for catalytic activity. STS is expressed in many tissues, with highest levels in placenta and skin. Its deficiency leads to X-linked ichthyosis and placental sulfatase deficiency.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| STS Knockout HEK293 Cell Line | EDJ-KQ4101 | Human | 412 | Details Get a Quote |
| STS Knockout A-549 Cell Line | EDJ-KQ26485 | Human | 412 | Details Get a Quote |
| STS Knockout HeLa Cell Line | EDJ-KQ26486 | Human | 412 | Details Get a Quote |
| STS Knockout HCT 116 Cell Line | EDJ-KQ69623 | Human | 412 | Details Get a Quote |
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