Gene: ARSG
Alternate names for this Gene: USH4
Gene Summary: The protein encoded by this gene belongs to the sulfatase enzyme family. Sulfatases hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules. This protein displays arylsulfatase activity at acidic pH, as is typical of lysosomal sulfatases, and has been shown to localize in the lysosomes. Alternatively spliced transcript variants have been found for this gene.
Gene is located in Chromosome: 17
Location in Chromosome : 17q24.2
Description of this Gene: arylsulfatase G
Type of Gene: protein-coding
rs11655081 in
ARSG gene and
Dystonia, Limb
PMID 24375517 2014 Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus?
rs11655081 in
ARSG gene and
Musician's Dystonia
PMID 24375517 2014 Genome-wide significance with MD was observed for an intronic variant in the arylsulfatase G (ARSG) gene (rs11655081; P = 3.95 × 10(-9) ; odds ratio [OR], 4.33; 95% confidence interval [CI], 2.66-7.05). rs11655081 was also associated with WD (P = 2.78 × 10(-2) ) but not with any other focal or segmental dystonia.