ARSK Chromosome 5
Arylsulfatase family member K
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What This Gene Does
Sulfatases (EC 3.1.5.6), such as ARSK, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008]
Gene Info
Gene Group
Sulfatases
Locus Type
gene with protein product
Location
5q15
Ensembl
ENSG00000164291
Associated Conditions (2)
Mucopolysaccharidosis
type 10
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147168858 | Health Risk | Pathogenic | Mucopolysaccharidosis, type 10, Mucopolysaccharidosis |
| RS749379584 | Health Risk | Pathogenic | Mucopolysaccharidosis, type 10, Mucopolysaccharidosis |
| RS762342379 | Health Risk | Pathogenic | Mucopolysaccharidosis, type 10, Mucopolysaccharidosis |