ARSA Chromosome 22
Arylsulfatase A
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What This Gene Does
The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010]
Gene Info
Gene Group
Sulfatases
Locus Type
gene with protein product
Location
22q13.33
Ensembl
ENSG00000100299
Associated Conditions (37)
Metachromatic leukodystrophy
Inborn genetic diseases
Neurodevelopmental disorder
ARSA-related disorder
Malignant lymphoma
large B-cell
diffuse
Ovarian serous cystadenocarcinoma
ARYLSULFATASE A PSEUDODEFICIENCY
Intellectual disability
juvenile type
Frontotemporal dementia
adult type
METACHROMATIC LEUKODYSTROPHY
LATE-ONSET
late infantile form
PSEUDOARYLSULFATASE A DEFICIENCY
Abnormality of the nervous system
SEVERE
Spastic ataxia
+17 more conditions
Key Variants
RS1057516730
Conflicting classifications of pathogenicity
Metachromatic leukodystrophy, Metachromatic leukodystrophy
Health Risk
RS1235007867
Conflicting classifications of pathogenicity
Metachromatic leukodystrophy, Inborn genetic diseases, Metachromatic leukodystrophy
Health Risk
RS1336260427
Conflicting classifications of pathogenicity
Metachromatic leukodystrophy, Metachromatic leukodystrophy
Health Risk
RS1404723529
Conflicting classifications of pathogenicity
Metachromatic leukodystrophy, Inborn genetic diseases, Metachromatic leukodystrophy
Health Risk
RS144393886
Conflicting classifications of pathogenicity
Metachromatic leukodystrophy, Inborn genetic diseases, Metachromatic leukodystrophy
Health Risk
RS1555901024
Conflicting classifications of pathogenicity
Metachromatic leukodystrophy, Metachromatic leukodystrophy
Health Risk
RS1603444881
Conflicting classifications of pathogenicity
Metachromatic leukodystrophy, Metachromatic leukodystrophy
Health Risk
RS192013394
Conflicting classifications of pathogenicity
Metachromatic leukodystrophy, Metachromatic leukodystrophy
Health Risk
RS199476341
Conflicting classifications of pathogenicity
Metachromatic leukodystrophy, Metachromatic leukodystrophy, Metachromatic leukodystrophy
Health Risk
RS199476365
Conflicting classifications of pathogenicity
Metachromatic leukodystrophy, Metachromatic leukodystrophy, Metachromatic leukodystrophy
Health Risk
RS199476366
Conflicting classifications of pathogenicity
Metachromatic leukodystrophy, Metachromatic leukodystrophy, Metachromatic leukodystrophy
Health Risk
RS199476367
Conflicting classifications of pathogenicity
Metachromatic leukodystrophy, Metachromatic leukodystrophy
Health Risk
All Variants (312)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS74315481 | Health Risk | Pathogenic/Likely pathogenic | METACHROMATIC LEUKODYSTROPHY, MILD, Metachromatic leukodystrophy |
| RS749426428 | Health Risk | Pathogenic/Likely pathogenic | Metachromatic leukodystrophy, Metachromatic leukodystrophy |
| RS750030142 | Health Risk | Pathogenic/Likely pathogenic | Metachromatic leukodystrophy, Metachromatic leukodystrophy |
| RS755635209 | Health Risk | Pathogenic/Likely pathogenic | Metachromatic leukodystrophy, Metachromatic leukodystrophy |
| RS755974448 | Health Risk | Pathogenic/Likely pathogenic | Metachromatic leukodystrophy, ARSA-related disorder, Metachromatic leukodystrophy |
| RS757891932 | Health Risk | Pathogenic/Likely pathogenic | Metachromatic leukodystrophy, Metachromatic leukodystrophy |
| RS769492279 | Health Risk | Pathogenic/Likely pathogenic | Metachromatic leukodystrophy, Metachromatic leukodystrophy, Metachromatic leukodystrophy |
| RS774153480 | Health Risk | Pathogenic/Likely pathogenic | Metachromatic leukodystrophy, Metachromatic leukodystrophy, Metachromatic leukodystrophy |
| RS777431148 | Health Risk | Pathogenic/Likely pathogenic | Metachromatic leukodystrophy, Metachromatic leukodystrophy |
| RS781625939 | Health Risk | Pathogenic/Likely pathogenic | Metachromatic leukodystrophy, Metachromatic leukodystrophy |
| RS867538940 | Health Risk | Pathogenic/Likely pathogenic | Metachromatic leukodystrophy, Metachromatic leukodystrophy |
| RS966673017 | Health Risk | Pathogenic/Likely pathogenic | Metachromatic leukodystrophy, Metachromatic leukodystrophy |