The sulfatase gene family.
During the past few years, molecular analyses have provided important insights into the biochemistry and genetics of the sulfatase family of enzymes, identifying the molecular bases of inherited diseases caused by sulfatase deficiencies. New members of the sulfatase gene family have been identified in man and other species using a genomic approach. These include the gene encoding arylsulfatase E, which is involved in X-linked recessive chondrodysplasia punctata, a disorder of cartilage and bone development. Another important breakthrough has been the discovery of the biochemical basis of multiple sulfatase deficiency, an autosomal recessive disorder characterized by a severe of all sulfatase activities. These discoveries, together with the resolution of the crystallographic structure of sulfatases, have improved our understanding of the function and evolution of this fascinating family of enzymes.
Parenti
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Department of Pediatrics, Federico II University, Naples, Italy.
Meroni
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Ballabio
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D000595:Amino Acid Sequence; D000818:Animals; D004195:Disease Models, Animal; D019143:Evolution, Molecular; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D017385:Sequence Homology; D013429:Sulfatases / Q000172:deficiency / Q000235:genetics* / Q000502:physiology
D013429:Sulfatases