sulfatase modifying factor 1

Symbol

SUMF1 (may also be known as: None)

Organism

Human

Description

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]

Orthologs

SymbolSpecies
CG7049 Drosophila melanogaster
sumf1 Danio rerio
Sumf1 Mus musculus
Sumf1 Rattus norvegicus

Links to external resources

Changes associated with this gene

GO Terms

GO IDGO TermGO Category
GO:0005783 endoplasmic reticulum cellular_component
GO:0005788 endoplasmic reticulum lumen cellular_component
GO:0005488 binding molecular_function
GO:0016491 oxidoreductase activity molecular_function
GO:0042803 protein homodimerization activity molecular_function
GO:0046872 metal ion binding molecular_function