Aliases for ARSA Gene
Aliases for ARSA Gene
External Ids for ARSA Gene
- HGNC: 713
- Entrez Gene: 410
- Ensembl: ENSG00000100299
- OMIM: 607574
- UniProtKB: P15289
Previous GeneCards Identifiers for ARSA Gene
- GC22M047567
- GC22M049195
- GC22M049353
- GC22M049410
- GC22M051063
- GC22M033953
Summaries for ARSA Gene
-
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]
GeneCards Summary for ARSA Gene
ARSA (Arylsulfatase A) is a Protein Coding gene. Diseases associated with ARSA include Metachromatic Leukodystrophy and Metachromatic Leukodystrophy, Adult Form. Among its related pathways are Metabolism of proteins and Innate Immune System. Gene Ontology (GO) annotations related to this gene include calcium ion binding and arylsulfatase activity. An important paralog of this gene is GALNS.
UniProtKB/Swiss-Prot for ARSA Gene
-
Hydrolyzes cerebroside sulfate.
Additional gene information for ARSA Gene
- Monarch Initiative
- Search for ARSA at DataMed
- Search for ARSA at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARSA Gene
Genomics for ARSA Gene
GeneHancer (GH) Regulatory Elements for ARSA Gene
Regulatory Element Products
Genomic Locations for ARSA Gene
- chr22:50,622,754-50,628,173
- (GRCh38/hg38)
- Size:
- 5,420 bases
- Orientation:
- Minus strand
- chr22:51,061,182-51,066,607
- (GRCh37/hg19)
Genomic View for ARSA Gene
- Cytogenetic band:
-
- 22q13.33 by Ensembl
- 22q13.33 by Entrez Gene
- 22q13.33 by HGNC


RefSeq DNA sequence for ARSA Gene
Proteins for ARSA Gene
-
Protein details for ARSA Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P15289-ARSA_HUMAN
- Recommended name:
- Arylsulfatase A
- Protein Accession:
- P15289
- B2RCA6
- B7XD04
- F8WCC8
- Q6ICI5
- Q96CJ0
Protein attributes for ARSA Gene
- Size:
- 507 amino acids
- Molecular mass:
- 53588 Da
- Cofactor:
- Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
- Quaternary structure:
-
- Homodimer at neutral pH and homooctamer at acidic pH. Exists both as a single chain of 58 kDa (component A) or as a chain of 50 kDa (component B) linked by disulfide bond(s) to a 7 kDa chain (component C). Interacts with SUMF1.
- Miscellaneous:
-
- The metal cofactor was first identified as magnesium ion, based on the structure of the recombinant protein, but when purified from human placenta, the protein contains 1 calcium ion per subunit.
- SequenceCaution:
-
- Sequence=AAB03341.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAH11167.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for ARSA Gene
Protein Expression for ARSA Gene
Selected DME Specific Peptides for ARSA Gene
- P15289:
-
- PSRAALLTGRLP
- GKYKAHF
Post-translational modifications for ARSA Gene
- The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity. This post-translational modification is severely defective in multiple sulfatase deficiency (MSD).
- Glycosylation at Asn158, posLast=184184, and posLast=350350
Other Protein References for ARSA Gene
Antibody Products
- R&D Systems Antibodies for ARSA (Arylsulfatase A/ARSA)
- Novus Biologicals Antibodies for ARSA
-
Abcam antibodies for ARSA
-
Cloud-Clone Corp. Antibodies for ARSA
- Invitrogen Antibodies for ARSA
- GeneTex ARSA antibody for ARSA
-
Santa Cruz Biotechnology (SCBT) Antibodies for ARSA
- Sino Biological Antibodies for ARSA
Protein Products
- R&D Systems Proteins and Enzymes for ARSA (Arylsulfatase A/ARSA)
- Search Origene for MassSpec and Protein Over-expression Lysates for ARSA
- Origene Custom Protein Services for ARSA
- Sino Biological Cell Lysates for ARSA
- Sino Biological Recombinant Proteins for ARSA
- ProSpec Recombinant Proteins for ARSA
-
Cloud-Clone Corp. Proteins for ARSA
- Search GeneTex for Proteins for ARSA
-
ProSci Proteins for ARSA
-
Abcam proteins for ARSA
Assay Products
-
Cloud-Clone Corp. Assay Kits for ARSA
Domains & Families for ARSA Gene
Gene Families for ARSA Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
- Predicted secreted proteins
Protein Domains for ARSA Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for ARSA Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P15289- Family:
-
- Belongs to the sulfatase family.
Function for ARSA Gene
Molecular function for ARSA Gene
- GENATLAS Biochemistry:
- arylsulfatase A,lysosomal,hydrolyzing esters bonds in cerebrosides,sulfation of most sulfolipids
- UniProtKB/Swiss-Prot CatalyticActivity:
- A cerebroside 3-sulfate + H(2)O = a cerebroside + sulfate.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Inhibited by phosphate. The phosphate forms a covalent bond with the active site 3-oxoalanine.
- UniProtKB/Swiss-Prot Function:
- Hydrolyzes cerebroside sulfate.
Enzyme Numbers (IUBMB) for ARSA Gene
Phenotypes From GWAS Catalog for ARSA Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003824 | catalytic activity | IEA | -- |
GO:0004065 | arylsulfatase activity | TAS | 2562955 |
GO:0004098 | cerebroside-sulfatase activity | TAS | -- |
GO:0005509 | calcium ion binding | IDA | 12888274 |
GO:0005515 | protein binding | IPI | 21516116 |
Phenotypes for ARSA Gene
- MGI mutant phenotypes for ARSA:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for ARSA:
Animal Models for ARSA Gene
- MGI Knock Outs for ARSA:
-
- Arsa tm1Gie
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for ARSA
-
-
ViGene Biosciences lentiviral particle packaged cDNA for ARSA gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ARSA gene
- Search ViGene Biosciences for ARSA
CRISPR Products
-
OriGene CRISPR knockouts for ARSA
- Applied Biological Materials CRISPR for ARSA
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ARSA
- GenScript: Design CRISPR guide RNA sequences for ARSA
miRNA for ARSA Gene
- miRTarBase miRNAs that target ARSA
-
- hsa-mir-335-5p (MIRT018147)
- hsa-mir-665 (MIRT610847)
- hsa-mir-3162-5p (MIRT610848)
- hsa-mir-7160-5p (MIRT610849)
- hsa-mir-4722-5p (MIRT610850)
- hsa-mir-6884-5p (MIRT610851)
- hsa-mir-485-5p (MIRT610852)
- hsa-mir-1827 (MIRT610853)
- hsa-mir-4649-3p (MIRT610854)
- hsa-mir-6791-5p (MIRT610855)
- hsa-mir-4292 (MIRT610856)
- hsa-mir-4308 (MIRT610857)
- hsa-mir-4768-3p (MIRT610858)
- hsa-mir-4756-5p (MIRT610859)
- hsa-mir-4739 (MIRT610860)
- hsa-mir-1321 (MIRT610861)
- hsa-mir-6760-5p (MIRT610862)
- hsa-mir-4478 (MIRT610863)
- hsa-mir-4419b (MIRT610864)
- hsa-mir-3929 (MIRT610865)
- hsa-mir-940 (MIRT610866)
- hsa-mir-6893-5p (MIRT610867)
- hsa-mir-6808-5p (MIRT610868)
- hsa-mir-106a-3p (MIRT761097)
- hsa-mir-122-5p (MIRT761313)
- hsa-mir-1307-3p (MIRT762463)
- hsa-mir-130a-3p (MIRT762479)
- hsa-mir-130b-3p (MIRT762497)
- hsa-mir-301a-3p (MIRT764403)
- hsa-mir-301b-3p (MIRT764421)
- hsa-mir-3135b (MIRT764910)
- hsa-mir-3652 (MIRT766269)
- hsa-mir-3666 (MIRT766541)
- hsa-mir-4295 (MIRT768455)
- hsa-mir-4430 (MIRT768904)
- hsa-mir-4466 (MIRT769431)
- hsa-mir-454-3p (MIRT770237)
- hsa-mir-4638-5p (MIRT770521)
- hsa-mir-504-3p (MIRT773032)
- hsa-mir-675-5p (MIRT778390)
miRNA Products
- Search ViGene Biosciences for ARSA
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for ARSA
- Browse OriGene Inhibitory RNA Products For ARSA
-
ViGene Biosciences ready-to-package AAV shRNAs for ARSA gene
Clone Products
-
OriGene ORF clones in human for ARSA
- RG213113
- RC213113L2
- RC213113L1
- RC213113
- RG213161
- RC213161L2
- RC213161L1
- RC213161
- RG215527
- RC215527L2
- RC215527L1
- RC215527
- RG213072
- RC213072L2
- RC213072L1
- RC213072
- RG204319
- RC204319L2
- RC204319L1
- RC204319
- RC213113L2V
- RC213113L1V
- RC213161L2V
- RC213161L1V
- RC215527L2V
- RC215527L1V
- RC213072L2V
- RC213072L1V
- RC204319L2V
- RC204319L1V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ARSA
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for ARSA
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ARSA
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for 142 available Arylsulfatase A gene related products
- Overview of 142 available Arylsulfatase A gene related products
- orf clones - Search results for 142 available Arylsulfatase A gene related products
- Overview of 142 available Arylsulfatase A gene related products
- Applied Biological Materials Clones for ARSA
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for ARSA
-
ViGene Biosciences adenoviral particle packaged cDNA for ARSA gene
-
ViGene Biosciences lentiviral particle packaged cDNA for ARSA gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ARSA gene
No data available for Transcription Factor Targets and HOMER Transcription for ARSA Gene
Localization for ARSA Gene
Subcellular locations from UniProtKB/Swiss-Prot for ARSA Gene
- Lysosome.
- Cytosol (1)
- Golgi apparatus (1)
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005764 | lysosome | TAS | 2562955 |
GO:0005768 | endosome | IEA | -- |
Pathways & Interactions for ARSA Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Sphingolipid metabolism | ||
2 | Innate Immune System |
.61
|
|
3 | Gamma carboxylation, hypusine formation and arylsulfatase activation | ||
4 | Metabolism |
.37
|
|
5 | Metabolism of proteins |
Pathways by source for ARSA Gene
11 Reactome pathways for ARSA Gene
2 KEGG pathways for ARSA Gene
Interacting Proteins for ARSA Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006687 | glycosphingolipid metabolic process | TAS | -- |
GO:0006914 | autophagy | IEA | -- |
GO:0007339 | binding of sperm to zona pellucida | IEA | -- |
GO:0007417 | central nervous system development | IEA | -- |
GO:0007584 | response to nutrient | IEA | -- |
No data available for SIGNOR curated interactions for ARSA Gene
Drugs & Compounds for ARSA Gene
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Micafungin | Approved, Investigational | Pharma | Enzyme, substrate | 60 | ||
Suramin | Approved, Investigational | Pharma | Antagonist, Enzyme, inhibitor | 18 | ||
Water | Approved | Pharma | 0 | |||
Magnesium | Approved | Nutra | 0 | |||
2-Amino-3-Hydroxy-3-Phosphonooxy-Propionic Acid | Experimental | Pharma | Target, Enzyme | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Sulfate |
|
14808-79-8 | ||||
3-O-Sulfogalactosylceramide (d18:1/24:0) |
|
151122-71-3 |
|
|||
Galactosylceramide (d18:1/16:0) |
|
|
||||
Galactosylceramide (d18:1/18:0) |
|
|
||||
Galactosylceramide (d18:1/18:1(9Z)) |
|
|
Transcripts for ARSA Gene
mRNA/cDNA for ARSA Gene
- (8) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (228) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ARSA Gene
CRISPR Products
-
OriGene CRISPR knockouts for ARSA
- Applied Biological Materials CRISPR for ARSA
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ARSA
- GenScript: Design CRISPR guide RNA sequences for ARSA
miRNA Products
- Search ViGene Biosciences for ARSA
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for ARSA
- Browse OriGene Inhibitory RNA Products For ARSA
-
ViGene Biosciences ready-to-package AAV shRNAs for ARSA gene
Clone Products
-
OriGene ORF clones in human for ARSA
- RG213113
- RC213113L2
- RC213113L1
- RC213113
- RG213161
- RC213161L2
- RC213161L1
- RC213161
- RG215527
- RC215527L2
- RC215527L1
- RC215527
- RG213072
- RC213072L2
- RC213072L1
- RC213072
- RG204319
- RC204319L2
- RC204319L1
- RC204319
- RC213113L2V
- RC213113L1V
- RC213161L2V
- RC213161L1V
- RC215527L2V
- RC215527L1V
- RC213072L2V
- RC213072L1V
- RC204319L2V
- RC204319L1V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ARSA
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for ARSA
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ARSA
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for 142 available Arylsulfatase A gene related products
- Overview of 142 available Arylsulfatase A gene related products
- orf clones - Search results for 142 available Arylsulfatase A gene related products
- Overview of 142 available Arylsulfatase A gene related products
- Applied Biological Materials Clones for ARSA
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | · | 3d | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||||||||||||||
SP8: |
Expression for ARSA Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ARSA Gene
NURSA nuclear receptor signaling pathways regulating expression of ARSA Gene:
ARSASOURCE GeneReport for Unigene cluster for ARSA Gene:
Hs.88251Evidence on tissue expression from TISSUES for ARSA Gene
- Liver(4.6)
- Nervous system(4.6)
- Skin(2.7)
- Kidney(2.2)
- Lung(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ARSA Gene
- ectoderm
- endoderm
- mesoderm
- cardiovascular
- digestive
- immune
- nervous
- skeletal muscle
- urinary
- brain
- cerebrospinal fluid
- cranial nerve
- eye
- face
- head
- jaw
- mandible
- maxilla
- meninges
- mouth
- neck
- nose
- skull
- tongue
- abdominal wall
- biliary tract
- gallbladder
- liver
- pancreas
- prostate
- urinary bladder
- foot
- lower limb
- upper limb
- blood
- peripheral nerve
- peripheral nervous system
- spinal cord
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for ARSA
-
OriGene qPCR primer pairs and template standards for ARSA
- genomics-online: primer clones - Search results for 142 available Arylsulfatase A gene related products
- Overview of 142 available Arylsulfatase A gene related products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ARSA Gene
Orthologs for ARSA Gene
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | ARSA 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | ARSA 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | ARSA 33 34 |
|
||
mouse (Mus musculus) |
Mammalia | Arsa 33 16 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Arsa 33 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | ARSA 34 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
ManyToMany | |
chicken (Gallus gallus) |
Aves | ARSA 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | ARSA 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | arsa 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | arsa 33 34 |
|
||
worm (Caenorhabditis elegans) |
Secernentea | D1014.1 35 |
|
|
|
sul-2 34 |
|
OneToMany | |||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
ManyToMany |
- Species where no ortholog for ARSA was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for ARSA Gene
Variants for ARSA Gene
SNP ID | Clin | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1009512257 | uncertain-significance, Metachromatic leukodystrophy | 50,627,921(-) | C/T | 5_prime_UTR_variant, intron_variant | |
rs1015646255 | uncertain-significance, Metachromatic leukodystrophy | 50,628,134(-) | C/A/G/T | 5_prime_UTR_variant | |
rs1021165038 | uncertain-significance, Metachromatic leukodystrophy | 50,623,878(-) | G/A | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
rs1057516288 | likely-pathogenic, Metachromatic leukodystrophy | 50,627,568(-) | CACA/CA | coding_sequence_variant, frameshift, intron_variant | |
rs1057516373 | likely-pathogenic, Metachromatic leukodystrophy | 50,626,843(-) | ATA/ATATA | coding_sequence_variant, frameshift |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3575503 | CNV | gain | 25503493 |
esv3648092 | CNV | loss | 21293372 |
esv3648093 | CNV | gain | 21293372 |
nsv1059057 | CNV | gain | 25217958 |
nsv1067172 | CNV | gain | 25217958 |
nsv519694 | CNV | gain+loss | 19592680 |
nsv589224 | CNV | loss | 21841781 |
nsv589225 | CNV | gain | 21841781 |
nsv834239 | CNV | loss | 17160897 |
nsv955203 | CNV | deletion | 24416366 |
Additional Variant Information for ARSA Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARSA Gene
Disorders for ARSA Gene

(18) MalaCards diseases for ARSA Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
Disorder | Aliases | PubMed IDs |
---|---|---|
metachromatic leukodystrophy |
|
|
metachromatic leukodystrophy, adult form |
|
|
metachromatic leukodystrophy, late infantile form |
|
|
metachromatic leukodystrophy, juvenile form |
|
|
multiple sulfatase deficiency |
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UniProtKB/Swiss-Prot
ARSA_HUMAN- Leukodystrophy metachromatic (MLD) [MIM:250100]: A leukodystrophy due to a lysosomal storage defect. Characterized by intralysosomal storage of cerebroside-3-sulfate in neural and non-neural tissues, with a diffuse loss of myelin in the central nervous system. Progressive demyelination causes a variety of neurological symptoms, including gait disturbances, ataxias, optical atrophy, dementia, seizures, and spastic tetraparesis. Three forms of the disease can be distinguished according to the age at onset: late-infantile, juvenile and adult. {ECO:0000269 PubMed:10220151, ECO:0000269 PubMed:10381328, ECO:0000269 PubMed:10477432, ECO:0000269 PubMed:10533072, ECO:0000269 PubMed:10751093, ECO:0000269 PubMed:11020646, ECO:0000269 PubMed:11061266, ECO:0000269 PubMed:11456299, ECO:0000269 PubMed:11941485, ECO:0000269 PubMed:12503099, ECO:0000269 PubMed:12788103, ECO:0000269 PubMed:1353340, ECO:0000269 PubMed:14517960, ECO:0000269 PubMed:14680985, ECO:0000269 PubMed:15026521, ECO:0000269 PubMed:15326627, ECO:0000269 PubMed:15710861, ECO:0000269 PubMed:1670590, ECO:0000269 PubMed:1673291, ECO:0000269 PubMed:1678251, ECO:0000269 PubMed:18693274, ECO:0000269 PubMed:19606494, ECO:0000269 PubMed:20339381, ECO:0000269 PubMed:21265945, ECO:0000269 PubMed:7581401, ECO:0000269 PubMed:7825603, ECO:0000269 PubMed:7860068, ECO:0000269 PubMed:7902317, ECO:0000269 PubMed:7906588, ECO:0000269 PubMed:7909527, ECO:0000269 PubMed:8095918, ECO:0000269 PubMed:8101038, ECO:0000269 PubMed:8101083, ECO:0000269 PubMed:8104633, ECO:0000269 PubMed:8891236, ECO:0000269 PubMed:9090526, ECO:0000269 PubMed:9272717, ECO:0000269 PubMed:9452102, ECO:0000269 PubMed:9490297, ECO:0000269 PubMed:9600244, ECO:0000269 PubMed:9819708}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Multiple sulfatase deficiency (MSD) [MIM:272200]: A clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post-translational modification and activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay. {ECO:0000269 PubMed:15146462}. Note=The protein represented in this entry is involved in disease pathogenesis. Arylsulfatase A activity is impaired in multiple sulfatase deficiency due to mutations in SUMF1 (PubMed:15146462). SUMF1 mutations result in defective post-translational modification of ARSA at residue Cys-69 that is not converted to 3-oxoalanine (PubMed:7628016). {ECO:0000269 PubMed:15146462, ECO:0000269 PubMed:7628016}.
Additional Disease Information for ARSA
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for ARSA Gene
Publications for ARSA Gene
- Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy. (PMID: 19606494) Cesani M … Biffi A (Human mutation 2009) 3 4 22 58
- Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles. (PMID: 18693274) Grossi S … Filocamo M (Human mutation 2008) 3 4 22 58
- Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy. (PMID: 15772092) Matzner U … Gieselmann V (Human molecular genetics 2005) 2 3 22 58
- Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene. (PMID: 15710861) Marcão AM … Gieselmann V (Archives of neurology 2005) 3 4 22 58
- Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries. (PMID: 16140556) Lugowska A … Czartoryska B (Molecular genetics and metabolism 2005) 3 22 44 58
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