Gene: STS

Alternate names for this Gene: ARSC|ARSC1|ASC|ES|SSDD|XLI

Gene Summary: 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).

Gene is located in Chromosome: X

Location in Chromosome : Xp22.31

Description of this Gene: steroid sulfatase

Type of Gene: protein-coding

rs12689028 in STS gene and Colorectal Carcinoma PMID 22532847 2012 Pooled sample-based GWAS: a cost-effective alternative for identifying colorectal and prostate cancer risk variants in the Polish population.

rs137853165 in STS gene and Ichthyosis, X-Linked PMID 10844566 2000 Novel point mutations in the steroid sulfatase gene in patients with X-linked ichthyosis: transfection analysis using the mutated genes.

PMID 10679952 2000 PCR diagnosis of X-linked ichthyosis: identification of a novel mutation (E560P) of the steroid sulfatase gene.

PMID 9252398 1997 Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein.

PMID 1539590 1992 Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis.