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
RS2112582627 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS2112617391 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS2478819129 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS2479235083 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS2479693236 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS2479695133 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS2479696486 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS2530589091 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS2530589458 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS2530590182 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS2530606066 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS2530607662 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS2530669392 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS2530669901 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS431905495 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS749015246 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS755279298 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS756671977 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS759356342 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS759384989 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS765872780 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS768802200 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS769313336 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS769996056 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS776814144 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS779861743 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS79970603 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS886039914 Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS118203943 Health Risk Pathogenic Mucopolysaccharidosis type 6, Metachromatic leukodystrophy, ARSB-related disorder
RS118203944 Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1188297697 Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1234650208 Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1251438062 Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1284351522 Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1299207831 Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1310996698 Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1395754016 Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554032094 Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554032110 Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554032122 Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554032155 Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554032196 Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554032220 Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554032243 Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554069660 Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554069793 Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554074124 Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554079296 Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554079302 Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554079318 Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
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