Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
, 113 (4), 435-44

Multiple Sulfatase Deficiency Is Caused by Mutations in the Gene Encoding the Human C(alpha)-formylglycine Generating Enzyme

Affiliations

Multiple Sulfatase Deficiency Is Caused by Mutations in the Gene Encoding the Human C(alpha)-formylglycine Generating Enzyme

Thomas Dierks et al. Cell.

Abstract

C(alpha)-formylglycine (FGly) is the catalytic residue in the active site of eukaryotic sulfatases. It is posttranslationally generated from a cysteine in the endoplasmic reticulum. The genetic defect of FGly formation causes multiple sulfatase deficiency (MSD), a lysosomal storage disorder. We purified the FGly generating enzyme (FGE) and identified its gene and nine mutations in seven MSD patients. In patient fibroblasts, the activity of sulfatases is partially restored by transduction of FGE encoding cDNA, but not by cDNA carrying an MSD mutation. The gene encoding FGE is highly conserved among pro- and eukaryotes and has a paralog of unknown function in vertebrates. FGE is localized in the endoplasmic reticulum and is predicted to have a tripartite domain structure.

Comment in

Similar articles

See all similar articles

Cited by 96 PubMed Central articles

See all "Cited by" articles

Publication types

MeSH terms

Associated data

LinkOut - more resources

Feedback