Entrez Gene ID | 22901 |
---|---|
Official Gene Symbol | ARSG (GeneCards) |
Full name | arylsulfatase G |
Location | 17q24.2 |
Other ids | Vega : OTTHUMG00000179810 MIM : 610008 HGNC : HGNC:24102 Ensembl : ENSG00000141337 |
Other names | None |
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. [provided by RefSeq, Jun 2012] |
Found 3 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
20035 | 22901 | ARSG | 17 | 66285443 | 66285443 | Asymptomatic | HiSeq X Ten |
20174 | 22901 | ARSG | 17 | 66397745 | 66397745 | Xeroderma Pigmentosum | HiSeq X Ten |
29314 | 22901 | ARSG | 17 | 66303587 | 66303587 | Autism Spectrum Disorders | HiSeq X Ten PASM |