Full name: sulfatase modifying factor 1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: AAPA3037; FGE; UNQ3037

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]

Expression: Ubiquitous expression in kidney (RPKM 5.9), thyroid (RPKM 5.6) and 25 other tissues

Gene size: 432784bp

Exon count: 16