Aliases for SUMF1 Gene
External Ids for SUMF1 Gene
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]
GeneCards Summary for SUMF1 Gene
SUMF1 (Sulfatase Modifying Factor 1) is a Protein Coding gene. Diseases associated with SUMF1 include multiple sulfatase deficiency and metachromatic leukodystrophy. Among its related pathways are PTM- gamma carboxylation, hypusine formation and arylsulfatase activation and PTM- gamma carboxylation, hypusine formation and arylsulfatase activation. GO annotations related to this gene include protein homodimerization activity and oxidoreductase activity. An important paralog of this gene is SUMF2.
UniProtKB/Swiss-Prot for SUMF1 Gene
Using molecular oxygen and an unidentified reducing agent, oxidizes a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also called C(alpha)-formylglycine. Known substrates include GALNS, ARSA, STS and ARSE.