ARSG Chromosome 17
Arylsulfatase G
Upload your DNA to see your personal genotypes for variants in ARSG.
What This Gene Does
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]
Gene Info
Gene Group
Sulfatases
Locus Type
gene with protein product
Location
17q24.2
Ensembl
ENSG00000141337
Associated Conditions (3)
Usher syndrome
type 4
ARSG-related disorder
Key Variants
RS1443647175
Conflicting classifications of pathogenicity
Health Risk
RS199566950
Conflicting classifications of pathogenicity
Usher syndrome, type 4, Usher syndrome
Health Risk
RS199774302
Conflicting classifications of pathogenicity
ARSG-related disorder, ARSG-related disorder
Health Risk
RS202165247
Conflicting classifications of pathogenicity
Health Risk
RS372096059
Conflicting classifications of pathogenicity
Health Risk
RS758656481
Conflicting classifications of pathogenicity
Health Risk
RS774988063
Conflicting classifications of pathogenicity
Health Risk
RS1302913513
Likely pathogenic
Usher syndrome, type 4, Usher syndrome
Health Risk
RS1351562877
Likely pathogenic
Health Risk
RS141748845
Likely pathogenic
Usher syndrome, type 4, Usher syndrome
Health Risk
RS1555764960
Likely pathogenic
Health Risk
RS2510614539
Likely pathogenic
Usher syndrome, type 4, Usher syndrome
Health Risk
All Variants (39)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1443647175 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199566950 | Health Risk | Conflicting classifications of pathogenicity | Usher syndrome, type 4, Usher syndrome |
| RS199774302 | Health Risk | Conflicting classifications of pathogenicity | ARSG-related disorder, ARSG-related disorder |
| RS202165247 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS372096059 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS758656481 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS774988063 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1302913513 | Health Risk | Likely pathogenic | Usher syndrome, type 4, Usher syndrome |
| RS1351562877 | Health Risk | Likely pathogenic | — |
| RS141748845 | Health Risk | Likely pathogenic | Usher syndrome, type 4, Usher syndrome |
| RS1555764960 | Health Risk | Likely pathogenic | — |
| RS2510614539 | Health Risk | Likely pathogenic | Usher syndrome, type 4, Usher syndrome |
| RS2510879184 | Health Risk | Likely pathogenic | — |
| RS751180603 | Health Risk | Likely pathogenic | — |
| RS947108148 | Health Risk | Likely pathogenic | — |
| RS1016594361 | Health Risk | Pathogenic | — |
| RS1157259307 | Health Risk | Pathogenic | — |
| RS1244718647 | Health Risk | Pathogenic | Usher syndrome, type 4, Usher syndrome |
| RS1253942262 | Health Risk | Pathogenic | Usher syndrome, type 4, Usher syndrome |
| RS1266313425 | Health Risk | Pathogenic | — |
| RS1467957839 | Health Risk | Pathogenic | — |
| RS1568445893 | Health Risk | Pathogenic | Usher syndrome, type 4, Usher syndrome |
| RS200685916 | Health Risk | Pathogenic | Usher syndrome, type 4, Usher syndrome |
| RS2076654690 | Health Risk | Pathogenic | — |
| RS2146309254 | Health Risk | Pathogenic | — |
| RS2509431594 | Health Risk | Pathogenic | — |
| RS2509554461 | Health Risk | Pathogenic | — |
| RS2509555531 | Health Risk | Pathogenic | Usher syndrome, type 4, Usher syndrome |
| RS2509619909 | Health Risk | Pathogenic | — |
| RS2509620338 | Health Risk | Pathogenic | — |
| RS2510878113 | Health Risk | Pathogenic | — |
| RS751461705 | Health Risk | Pathogenic | Usher syndrome, type 4, Usher syndrome |
| RS751663413 | Health Risk | Pathogenic | Usher syndrome, type 4, Usher syndrome |
| RS756406920 | Health Risk | Pathogenic | — |
| RS758482493 | Health Risk | Pathogenic | — |
| RS769480000 | Health Risk | Pathogenic | — |
| RS780102540 | Health Risk | Pathogenic | — |
| RS782291804 | Health Risk | Pathogenic | — |
| RS761100309 | Health Risk | Pathogenic/Likely pathogenic | Usher syndrome, type 4, Usher syndrome |