rs2510614539

This variant is located in the ARSG gene.

ClinVar annotation

Likely Pathogenic☆☆☆
1 submitter1 publication

Usher syndrome, type 4

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About ARSG

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. [provided by RefSeq, Jun 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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