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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| SUMF1-20-RE | 20 (40 μL) | 200 μL |  |
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| SUMF1-20-OR | 20 (40 μL) | 200 μL |  |
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| SUMF1-20-GO | 20 (40 μL) | 200 μL |  |
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| SUMF1-20-GR | 20 (40 μL) | 200 μL |  |
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| SUMF1-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : SUMF1
Gene Name : Sulfatase modifying factor 1
Chromosome : CHR 3: 446,728,1-403,471,3
Locus : 3p26.1
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