Synonyms:ARSC, ARSC1, ASC, ENTREZ:412, ES, HGNC:11425, MIM:300747, NM_000351, NM_001320750, NM_001320751, NM_001320752, NM_001320753, NM_001320754, NP_000342, NP_001307679, NP_001307680, NP_001307681, NP_001307682, NP_001307683, SSDD, STS, XLI, steroid sulfatase
Omim:OMIM:300747
Id:ENSG00000101846
Hgnc:HGNC:11425
Description:steroid sulfatase
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]