Sulfatase-modifying factor 1 (SUMF1)

Sulfatase-modifying factor 1 (SUMF1) is an essential enzyme responsible for a unique post-translational modification required for the catalytic activity of all sulfatases in humans. Located in the endoplasmic reticulum, SUMF1 (also known as formylglycine-generating enzyme, FGE) converts a conserved cysteine residue of the sulfatases into a C-alpha-formylglycine, the catalytic residue necessary for hydrolysis of sulfate esters. Deficiency or mutations in SUMF1 result in multiple sulfatase deficiency, a fatal lysosomal storage disorder characterized by neurologic, skeletal, and dermal abnormalities due to global impairment of all sulfatases. SUMF1 is regulated by protein-protein interactions, intracellular trafficking, and post-translational modifications. Beyond rare genetic disease, altered SUMF1 expression is also associated with cancer and inflammation, but there are no approved drugs directly targeting SUMF1.

Other names

Formylglycine-generating enzymeFGEC-alpha-formylglycine-generating enzyme 1FGly-generating enzymeUNQ3037AAPA3037

Enhancement of sulfatase activation (in the context of potential gene therapy co-delivery with sulfatase cDNA)