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ARSA Gene(Protein Coding)

Arylsulfatase A

GCID:
GC22M050622
GIFtS:
57
Genes Participants
UDN Logo

Aliases for ARSA Gene

Aliases for ARSA Gene

  • Arylsulfatase A 2 3 5
  • Cerebroside-Sulfatase 3 4
  • ASA 3 4
  • Metachromatic Leucodystrophy 2
  • EC 3.1.6.8 4
  • EC 3.1.6 56
  • MLD 3

External Ids for ARSA Gene

Previous GeneCards Identifiers for ARSA Gene

  • GC22M047567
  • GC22M049195
  • GC22M049353
  • GC22M049410
  • GC22M051063
  • GC22M033953

Summaries for ARSA Gene

Entrez Gene Summary 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.

Gene Wiki entry for ARSA Gene

Additional gene information for ARSA Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARSA Gene

Genomics for ARSA Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for ARSA Gene

Promoters and enhancers for ARSA Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH22I050626 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 562.9 +0.2 150 2.4 HDGF ZNF493 ARID4B SIN3A YBX1 GLI4 ZNF2 ZNF280A GLIS2 KLF7 ARSA BRD1 ZBED4 RABL2B ENSG00000272836 TUBGCP6 PLXNB2 ALG12 CHKB LOC105373095
GH22I050619 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 31.1 +6.3 6317 3.7 PKNOX1 ATF1 SMAD1 MLX ZFP64 ARID4B DMAP1 IRF4 ZNF48 YY1 ARSA CPT1B CHKB TUBGCP6 SYCE3 MAPK8IP2 HDAC10 NCAPH2 PPP6R2 SBF1
GH22I049824 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.1 +800.5 800531 6 HDAC1 ARID4B SIN3A IRF4 RARA YY1 ZNF335 GLIS2 SCRT2 ZNF207 BRD1 LOC105377205 CHKB ARSA NCAPH2 PLXNB2 CRELD2 ENSG00000229409
GH22I050292 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.5 +327.1 327066 17.7 HDGF FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 PLXNB2 PIM3 BRD1 NCAPH2 RABL2B TYMP TUBGCP6 DENND6B LOC105373100 ODF3B
GH22I050536 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 9.3 +84.5 84507 13.7 HDGF FOXA2 PKNOX1 SMAD1 ARNT ARID4B SIN3A IRF4 YY1 SLC30A9 LOC105373098 TYMP ODF3B ENSG00000272821 CPT1B SCO2 CHKB SYCE3 ARSA TUBGCP6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ARSA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ARSA gene promoter:

Genomic Locations for ARSA Gene

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

Genes around ARSA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARSA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARSA Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ARSA Gene

Proteins for ARSA Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for ARSA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15289-ARSA_HUMAN
    Recommended name:
    Arylsulfatase A
    Protein Accession:
    P15289
    Secondary Accessions:
    • 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

    Alternative splice isoforms for ARSA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARSA Gene

Protein Expression for ARSA Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for ARSA (Arylsulfatase A/ARSA)
  • Abcam antibodies for ARSA
  • Santa Cruz Biotechnology (SCBT) Antibodies 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

UniProtKB/Swiss-Prot:

ARSA_HUMAN :
  • Belongs to the sulfatase family.
Family:
  • Belongs to the sulfatase family.
genes like me logo Genes that share domains with ARSA: view

Function for ARSA Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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

Gene Ontology (GO) - Molecular Function 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
genes like me logo Genes that share ontologies with ARSA: view
genes like me logo Genes that share phenotypes with ARSA: view

Human Phenotype Ontology for ARSA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ARSA Gene

MGI Knock Outs for ARSA:

Animal Model Products

Clone Products

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ARSA gene
Compartment Confidence
extracellular 5
lysosome 5
endoplasmic reticulum 4
cytosol 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Golgi apparatus (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ARSA Gene

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 --
genes like me logo Genes that share ontologies with ARSA: view

Pathways & Interactions for ARSA Gene

genes like me logo Genes that share pathways with ARSA: view

Gene Ontology (GO) - Biological Process 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 --
genes like me logo Genes that share ontologies with ARSA: view

No data available for SIGNOR curated interactions for ARSA Gene

Drugs & Compounds for ARSA Gene

Products:

  1. Drug

(23) Drugs for ARSA Gene - From: DrugBank, HMDB, and Novoseek

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

(33) Additional Compounds for ARSA Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Sulfate
  • Sulfate (ion 2-)
  • Sulfate anion
  • Sulfate anion(2-)
  • Sulfate dianion
  • Sulfate ion
 14808-79-8
3-O-Sulfogalactosylceramide (d18:1/24:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • 3-O-Sulphogalactosylceramide
 151122-71-3
Galactosylceramide (d18:1/16:0)
  • a-GalCer
  • alpha-GalCer
  • Cerebroside
  • D-Galactosyl-N-acylsphingosine
  • D-Galactosylceramide
Galactosylceramide (d18:1/18:0)
  • a-GalCer
  • alpha-GalCer
  • Cerebroside
  • D-Galactosyl-N-acylsphingosine
  • D-Galactosylceramide
Galactosylceramide (d18:1/18:1(9Z))
  • a-GalCer
  • alpha-GalCer
  • Cerebroside
  • D-Galactosyl-N-acylsphingosine
  • D-Galactosylceramide
genes like me logo Genes that share compounds with ARSA: view

Transcripts for ARSA Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

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

Arylsulfatase A:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARSA Gene

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:

Relevant External Links for ARSA Gene

GeneLoc Exon Structure for
ARSA
ECgene alternative splicing isoforms for
ARSA

Expression for ARSA Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ARSA Gene

mRNA expression in normal human tissues for ARSA Gene
mRNA expression by BioGPS for ARSA GenemRNA expression by GTEx for ARSA Gene

Protein differential expression in normal tissues from HIPED for ARSA Gene

This gene is overexpressed in Urine (26.3), Bone marrow stromal cell (7.4), and Stomach (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ARSA Gene



Protein tissue co-expression partners for ARSA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ARSA Gene:

ARSA

SOURCE GeneReport for Unigene cluster for ARSA Gene:

Hs.88251

Evidence 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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • nervous
  • skeletal muscle
  • urinary
Organs:
Head and neck:
  • brain
  • cerebrospinal fluid
  • cranial nerve
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • skull
  • tongue
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • liver
  • pancreas
Pelvis:
  • prostate
  • urinary bladder
Limb:
  • foot
  • lower limb
  • upper limb
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with ARSA: view

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.

Orthologs for ARSA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia ARSA 33 34
  • 99.29 (n)
cow
(Bos Taurus)
 Mammalia ARSA 33 34
  • 87.42 (n)
dog
(Canis familiaris)
 Mammalia ARSA 33 34
  • 86.79 (n)
mouse
(Mus musculus)
 Mammalia Arsa 33 16 34
  • 83.68 (n)
rat
(Rattus norvegicus)
 Mammalia Arsa 33
  • 82.97 (n)
oppossum
(Monodelphis domestica)
 Mammalia ARSA 34
  • 75 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 34
  • 30 (a)
 ManyToMany
chicken
(Gallus gallus)
 Aves ARSA 33 34
  • 67.43 (n)
lizard
(Anolis carolinensis)
 Reptilia ARSA 34
  • 67 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia arsa 33
  • 58.75 (n)
zebrafish
(Danio rerio)
 Actinopterygii arsa 33 34
  • 59.82 (n)
worm
(Caenorhabditis elegans)
 Secernentea D1014.1 35
  • 36 (a)
sul-2 34
  • 28 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 35 (a)
 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)

Evolution for ARSA Gene

ENSEMBL:
Gene Tree for ARSA (if available)
TreeFam:
Gene Tree for ARSA (if available)

Paralogs for ARSA Gene

Paralogs for ARSA Gene

(3) SIMAP similar genes for ARSA Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ARSA: view

Variants for ARSA Gene

Sequence variations from dbSNP and Humsavar 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

Structural Variations from Database of Genomic Variants (DGV) for ARSA Gene

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

Variation tolerance for ARSA Gene

Residual Variation Intolerance Score: 89.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.41; 92.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARSA Gene

Human Gene Mutation Database (HGMD)
ARSA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARSA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARSA Gene

Disorders for ARSA Gene

MalaCards: The human disease database

(18) MalaCards diseases for ARSA Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
metachromatic leukodystrophy
  • mld
metachromatic leukodystrophy, adult form
  • arylsulfatase a deficiency, adult form
metachromatic leukodystrophy, late infantile form
  • arylsulfatase a deficiency, late infantile form
metachromatic leukodystrophy, juvenile form
  • arylsulfatase a deficiency, juvenile form
multiple sulfatase deficiency
  • msd
- elite association - COSMIC cancer census association via MalaCards
Search ARSA in MalaCards View complete list of genes associated with diseases

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
genes like me logo Genes that share disorders with ARSA: view

No data available for Genatlas for ARSA Gene

Publications for ARSA Gene

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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

Products for ARSA Gene

Sources for ARSA Gene

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