Sulfatases and human disease.
Sulfatases are a highly conserved family of proteins that cleave sulfate esters from a wide range of substrates. The importance of sulfatases in human metabolism is underscored by the presence of at least eight human monogenic diseases caused by the deficiency of individual sulfatases. Sulfatase activity requires a unique posttranslational modification, which is impaired in patients with multiple sulfatase deficiency (MSD) due to a mutation of the sulfatase modifying factor 1 (SUMF1). Here we review current knowledge and future perspectives on the evolution of the sulfatase gene family, on the role of these enzymes in human metabolism, and on new developments in the therapy of sulfatase deficiencies.
Diez-Roux
Graciana
G
Telethon Institute of Genetics and Medicine (TIGEM), Department of Pediatrics, Federico II University, Naples 80131, Italy. diezroux@tigem.it
Ballabio
Andrea
A
D000595:Amino Acid Sequence; D000818:Animals; D004195:Disease Models, Animal; D019143:Evolution, Molecular; D006801:Humans; D008247:Lysosomes / Q000201:enzymology; D008661:Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics; D008969:Molecular Sequence Data; D015394:Molecular Structure; D009154:Mutation; D050862:Oxidoreductases Acting on Sulfur Group Donors; D010802:Phylogeny; D011499:Protein Processing, Post-Translational; D017386:Sequence Homology, Amino Acid; D013429:Sulfatases / Q000737:chemistry / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism
D050862:Oxidoreductases Acting on Sulfur Group Donors; C480483:SUMF1 protein, human; D013429:Sulfatases