SUMF1 Rabbit pAb

$83.16

Weight 3 lbs
Dimensions 5 × 5 × 5 in
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SKU: Abclonal-A14304- 20 μL Category:

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.

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