The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases

Cell. 2003 May 16;113(4):445-56. doi: 10.1016/s0092-8674(03)00348-9.


In multiple sulfatase deficiency (MSD), a human inherited disorder, the activities of all sulfatases are impaired due to a defect in posttranslational modification. Here we report the identification, by functional complementation using microcell-mediated chromosome transfer, of a gene that is mutated in MSD and is able to rescue the enzymatic deficiency in patients' cell lines. Functional conservation of this gene was observed among distantly related species, suggesting a critical biological role. Coexpression of SUMF1 with sulfatases results in a strikingly synergistic increase of enzymatic activity, indicating that SUMF1 is both an essential and a limiting factor for sulfatases. These data have profound implications on the feasibility of enzyme replacement therapy for eight distinct inborn errors of metabolism.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • COS Cells
  • Chromosomes, Human, Pair 3 / genetics
  • DNA, Complementary / analysis
  • DNA, Complementary / genetics
  • Evolution, Molecular
  • Gene Expression Regulation, Enzymologic / genetics*
  • Humans
  • Mice
  • Molecular Sequence Data
  • Mutation / genetics*
  • Protein Structure, Tertiary / genetics
  • Sequence Homology, Amino Acid
  • Sequence Homology, Nucleic Acid
  • Sphingolipidoses / enzymology*
  • Sphingolipidoses / genetics*
  • Sulfatases / deficiency*
  • Sulfatases / genetics*


  • DNA, Complementary
  • Sulfatases

Associated data

  • GENBANK/AK075459
  • RefSeq/NM_015411