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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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: C-alpha-formylglycine-generating enzyme 1; FGE; FGly-generating enzyme; Formylglycine-generating enzyme; MGC131853; MGC150436; OTTHUMP00000115300; Sulfatase-modifying factor 1
Gene Aliases: AAPA3037; FGE; PSEC0152; SUMF1; UNQ3037; UNQ3037/PRO9852
UniProt ID: (Human) Q8NBK3
Entrez Gene ID: (Human) 285362
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