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
RS118203942 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1197195532 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1201268402 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1205781478 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1209412483 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1211360114 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1255777033 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1267623765 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1378501017 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1383447253 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS147495977 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1484763838 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554032090 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554032099 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554032118 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554032131 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554032145 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554032153 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554032160 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554032222 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554032252 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554069655 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554069668 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554069669 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554069786 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554069791 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554074135 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554079268 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554079312 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554079320 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554086368 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554086370 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554086402 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554086417 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554087395 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554087406 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554087439 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554087441 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554087445 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554088079 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554088081 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1561197425 Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1580169508 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1747980506 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1751669303 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1751681202 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1752333074 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1753105092 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS2112530008 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS2112580593 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
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