Research Notes by Sergey
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December 8, 2023
  • #Copper
  • #SUMF1
  • #Lysosome
  • #Lysosomal Storage Disorder
  • #Multiple Sulfatase Deficiency
  • #Sulfatases

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  • SUMF1
References

Copper is a cofactor of SUMF1

SUMF1

This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Mutations in this gene cause multiple sulfatase deficiency, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. (Genecards)

References

1
SUMF1 (Formylglycine-generating enzyme) Uniprot
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