ARSB Chromosome 5
Arylsulfatase B
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What This Gene Does
Arylsulfatase B encoded by this gene belongs to the sulfatase family. The arylsulfatase B homodimer hydrolyzes sulfate groups of N-Acetyl-D-galactosamine, chondriotin sulfate, and dermatan sulfate. The protein is targeted to the lysozyme. Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2016]
Gene Info
Gene Group
Sulfatases
Locus Type
gene with protein product
Location
5q14.1
Ensembl
ENSG00000113273
Associated Conditions (14)
Mucopolysaccharidosis type 6
Mucopolysaccharidosis
type vi
mild
ARSB-related disorder
Ovarian serous cystadenocarcinoma
Familial cancer of breast
Colon adenocarcinoma
Thyroid cancer
nonmedullary
1
Inborn genetic diseases
Metachromatic leukodystrophy
severe
Key Variants
RS1035210606
Conflicting classifications of pathogenicity
Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
Health Risk
RS1064793026
Conflicting classifications of pathogenicity
Health Risk
RS118203940
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, type vi, mild
Health Risk
RS1233331806
Conflicting classifications of pathogenicity
Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
Health Risk
RS1247117898
Conflicting classifications of pathogenicity
Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
Health Risk
RS1271212818
Conflicting classifications of pathogenicity
Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
Health Risk
RS1280123243
Conflicting classifications of pathogenicity
Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
Health Risk
RS13354324
Conflicting classifications of pathogenicity
Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
Health Risk
RS1353542088
Conflicting classifications of pathogenicity
Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
Health Risk
RS138587718
Conflicting classifications of pathogenicity
Mucopolysaccharidosis type 6, ARSB-related disorder, Mucopolysaccharidosis type 6
Health Risk
RS1402584432
Conflicting classifications of pathogenicity
Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
Health Risk
RS140923667
Conflicting classifications of pathogenicity
Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
Health Risk
All Variants (243)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1554088002 | Health Risk | Pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1554089838 | Health Risk | Pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1747989303 | Health Risk | Pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1748005026 | Health Risk | Pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1752338387 | Health Risk | Pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1753093650 | Health Risk | Pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1753131019 | Health Risk | Pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS200188234 | Health Risk | Pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS200712296 | Health Risk | Pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS2112211996 | Health Risk | Pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS2112483439 | Health Risk | Pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS2112529559 | Health Risk | Pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS2112583121 | Health Risk | Pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS2112583680 | Health Risk | Pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS2478818355 | Health Risk | Pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS2478818781 | Health Risk | Pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS2479695783 | Health Risk | Pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS2479696245 | Health Risk | Pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS2530588881 | Health Risk | Pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS2530606693 | Health Risk | Pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS2530607059 | Health Risk | Pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS2530607373 | Health Risk | Pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS2530668572 | Health Risk | Pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS2530668714 | Health Risk | Pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS2530672292 | Health Risk | Pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS2530672763 | Health Risk | Pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS371886102 | Health Risk | Pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS431905493 | Health Risk | Pathogenic | Mucopolysaccharidosis, type vi, severe |
| RS431905494 | Health Risk | Pathogenic | Mucopolysaccharidosis, type vi, severe |
| RS746206847 | Health Risk | Pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS746396210 | Health Risk | Pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS750947605 | Health Risk | Pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS758712442 | Health Risk | Pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS765711776 | Health Risk | Pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS766914147 | Health Risk | Pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS768012515 | Health Risk | Pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS771296632 | Health Risk | Pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS773460207 | Health Risk | Pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS773492223 | Health Risk | Pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS780507196 | Health Risk | Pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS991104525 | Health Risk | Pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1028653411 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1057520739 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1064793027 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1180759765 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS118203939 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, type vi, severe |
| RS118203941 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, type vi, severe |
| RS1196325597 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1219483069 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1302294029 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |