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 |
|---|---|---|---|
| RS1035210606 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1064793026 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS118203940 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, type vi, mild |
| RS1233331806 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1247117898 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1271212818 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1280123243 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS13354324 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1353542088 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS138587718 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, ARSB-related disorder, Mucopolysaccharidosis type 6 |
| RS1402584432 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS140923667 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1435155976 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS144222167 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Ovarian serous cystadenocarcinoma, Familial cancer of breast |
| RS1465993279 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1478202079 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS149886659 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS150087888 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1554032095 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1554032175 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1554032205 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1554069661 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1554069775 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1554079311 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1554079333 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1554086435 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1554087999 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS183651028 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS199931771 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS200040980 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS201101343 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS202130413 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Inborn genetic diseases, Mucopolysaccharidosis type 6 |
| RS202134230 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS2478818657 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS2530666753 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS35597782 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS367650121 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS398123124 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS528157833 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, ARSB-related disorder, Mucopolysaccharidosis type 6 |
| RS762454192 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS762979755 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS768312895 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS772017949 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS774358117 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS779228581 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Inborn genetic diseases, Mucopolysaccharidosis type 6 |
| RS906245021 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1160897474 | Health Risk | Likely pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1167459660 | Health Risk | Likely pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1171277553 | Health Risk | Likely pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1179935748 | Health Risk | Likely pathogenic | Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |