STS

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]该基因编码一种定位于内质网的跨膜多蛋白，属于硫酸酯酶家族。该蛋白可水解多种3-β-羟基类固醇硫酸酯，这些硫酸酯作为雌激素、雄激素和胆固醇的代谢前体。该基因的突变与X连锁鱼鳞病（XLI）相关。此外，由于不同启动子的使用，已描述了该基因的多种选择性剪接转录变体（PMID:17601726）。[由RefSeq提供，2016年3月]