ARSB Chromosome 5

Arylsulfatase B
243 variants 243 Health Risk

Upload your DNA to see your personal genotypes for variants in ARSB.

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
RS1349838988 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1355071930 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1408739927 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554032129 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554032134 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554032216 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554032217 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554069808 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554074118 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554074132 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554079265 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554079284 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554086414 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554087423 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554088099 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1561197865 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, ARSB-related disorder, Mucopolysaccharidosis type 6
RS1580121683 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS200793396 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS2112530498 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS2478822503 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS2530607480 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS2530666598 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS376233975 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS397514441 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS398123123 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS398123125 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Inborn genetic diseases, Mucopolysaccharidosis type 6
RS431905496 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS555785323 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS727503809 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, ARSB-related disorder, Mucopolysaccharidosis type 6
RS748454316 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS749465732 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS749989641 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS750845916 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS751010538 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6, ARSB-related disorder
RS757061042 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS762614315 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS766772376 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS771113472 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS778868348 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS779378413 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS781510986 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS891298440 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS969231209 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
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