SUMF1

protein-coding External Resolution
GeneCards NCBI PubMed

External Info (via mygene)

SymbolSUMF1
Namesulfatase modifying factor 1
Typeprotein-coding
Sourcemygene

Summary

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. [provided by RefSeq, Sep 2009].

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