靶标:
Sumf1
产品别名:
AA543204; AI463102; AI851573; FGE; Sumf1; sulfatase modifying factor 1; sulfatase modifying factor 1; formylglycine-generating enzyme; C-alpha-formylglycine-generating enzyme 1; 硫酸酯酶修饰因子1; 硫酸酯酶修饰因子1(SUMF1);
背景信息:
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.