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The protein encoded by ARSG belongs to the sulfatase enzyme family.
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This study provide further support for a role of ARSG variants in task-specific dystonia, especially writer's cramp.
Genome-wide significance with musician's dystonia was observed for an intronic variant in the arylsulfatase G (ARSG) gene (rs11655081; P = 3.95 x 10(-9) ; odds ratio [OR], 4.33; 95% confidence interval [CI], 2.66-7.05).
ARSG is differentially expressed, processed, and transported in tissues involving a membrane-associated pre-lysosomal precursor.
Consistent genetic factors for ATP2B1 (zeige ATP2B1 Antikörper), CSK (zeige CSK Antikörper), ARSG and CSMD1 (zeige CSMD1 Antikörper) were present, which have been shown to be associated with high blood pressure and hypertension in two Korean cohorts.
molecular cloning and biochemical characterization of Arylsulfatase G [ARSG]
Arylsulfatase G is a novel lysosomal sulfatase (zeige ARSH Antikörper) and its expression is tissue-specific with highest expression in liver, kidney, and pancreas
Arsg knockout mice share common neuropathological findings with Sanfilippo syndrome animal models.
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.