{"symbol":"SUMF1","synonyms":["FGE","UNQ3037","AAPA3037"],"name":"sulfatase modifying factor 1","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]","ncbiEntrezGeneId":285362,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/285362","proteins":[{"symbol":"SUMF1_HUMAN","href":"/api/1.0/protein/SUMF1_HUMAN"}],"hgncRootFamilies":[]}