Sulfatase Modifying Factor 1/SUMF1: Proteins and Enzymes

Mammalian sulfatases have a common CXPXR motif, in which the Cys residue is post-translationally modified to a Calpha-formylglycine (FGly) residue. This modification is essential for catalytic activity of all sulfatases and is catalyzed by FGly generating enzyme (FGE) encoded by sulfatase modifying factor 1 (SUMF1). FGE deficiency causes multiple sulfatase deficiency (MSD), a rare autosomal recessive disorder. SUMF2 does not have FGly enzymatic activity, but may compete with SUMF1 for the same substrate.