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Aliases for ARSB Gene

Aliases for ARSB Gene

  • Arylsulfatase B 2 3 5
  • N-Acetylgalactosamine-4-Sulfatase 3 4
  • EC 3.1.6.12 4 56
  • ASB 3 4
  • G4S 3 4
  • MPS6 3

External Ids for ARSB Gene

Previous GeneCards Identifiers for ARSB Gene

  • GC05M076881
  • GC05M078312
  • GC05M078114
  • GC05M078159
  • GC05M078158
  • GC05M078108
  • GC05M073279

Summaries for ARSB Gene

Entrez Gene Summary for ARSB Gene

  • 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]

GeneCards Summary for ARSB Gene

ARSB (Arylsulfatase B) is a Protein Coding gene. Diseases associated with ARSB include Mucopolysaccharidosis Type Vi and Mucopolysaccharidosis Type 6, Slowly Progressing. Among its related pathways are Glycosaminoglycan metabolism and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include sulfuric ester hydrolase activity and N-acetylgalactosamine-4-sulfatase activity. An important paralog of this gene is ARSJ.

UniProtKB/Swiss-Prot for ARSB Gene

  • Removes sulfate groups from chondroitin-4-sulfate (C4S) and regulates its degradation (PubMed:19306108). Involved in the regulation of cell adhesion, cell migration and invasion in colonic epithelium (PubMed:19306108). In the central nervous system, is a regulator of neurite outgrowth and neuronal plasticity, acting through the control of sulfate glycosaminoglycans and neurocan levels (By similarity).

Additional gene information for ARSB Gene

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

Genomics for ARSB Gene

GeneHancer (GH) Regulatory Elements for ARSB Gene

Promoters and enhancers for ARSB 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
GH05I078979 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 568 +3.7 3682 7.4 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 ARSB GC05P078984 JMY BHMT LHFPL2
GH05I078911 Enhancer 1.1 Ensembl ENCODE dbSUPER 23.4 +74.1 74102 1.3 USF1 ZBTB21 KLF17 MAX FEZF1 RELA ZNF335 SCRT2 PRDM10 SCRT1 ARSB LHFPL2 GC05P078984
GH05I078905 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 12.5 +78.8 78785 5.3 PKNOX1 FEZF1 ZNF2 ZNF766 ZNF213 FOS RUNX3 CAVIN1 TSHZ1 ZNF592 ARSB GC05P078984 LHFPL2
GH05I079020 Enhancer 1 Ensembl ENCODE 15.9 -34.5 -34528 1.1 ELF3 CTCF MZF1 ZNF2 RAD21 GATA3 ZNF213 ZBTB48 SCRT2 ZNF143 ARSB BHMT BHMT2 LOC100505796 GC05M079042 DMGDH
GH05I078889 Enhancer 0.5 ENCODE dbSUPER 11.7 +96.4 96405 0.8 FOS ARSB LHFPL2 GC05P078984
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ARSB on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for ARSB Gene

Genomic Locations for ARSB Gene
chr5:78,777,209-78,986,534
(GRCh38/hg38)
Size:
209,326 bases
Orientation:
Minus strand
chr5:78,073,032-78,282,357
(GRCh37/hg19)

Genomic View for ARSB Gene

Genes around ARSB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ARSB Gene

Proteins for ARSB Gene

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

    Protein Symbol:
    P15848-ARSB_HUMAN
    Recommended name:
    Arylsulfatase B
    Protein Accession:
    P15848
    Secondary Accessions:
    • B2RC20
    • Q8N322
    • Q9UDI9

    Protein attributes for ARSB Gene

    Size:
    533 amino acids
    Molecular mass:
    59687 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for ARSB Gene

    Alternative splice isoforms for ARSB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARSB Gene

Selected DME Specific Peptides for ARSB Gene

P15848:
  • THMVGKWHLG
  • CVPLDEKLLPQLLK
  • CTPSRSQLLTGRYQI
  • PTRRGFDT
  • GLWNNTV

Post-translational modifications for ARSB 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 posLast=188188, Asn279, posLast=291291, Asn366, posLast=426426, and posLast=458458

Antibody Products

  • R&D Systems Antibodies for ARSB (Arylsulfatase B/ARSB)
  • Abcam antibodies for ARSB

Domains & Families for ARSB Gene

Gene Families for ARSB Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for ARSB Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P15848

UniProtKB/Swiss-Prot:

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

Function for ARSB Gene

Molecular function for ARSB Gene

GENATLAS Biochemistry:
arylsulfatase B,lysosomal,acting on dermatan sulfate,catalyzing the third step of degradation of glucosaminoglycans (mucopolysaccharides)
UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by ethanol (By similarity).
UniProtKB/Swiss-Prot Function:
Removes sulfate groups from chondroitin-4-sulfate (C4S) and regulates its degradation (PubMed:19306108). Involved in the regulation of cell adhesion, cell migration and invasion in colonic epithelium (PubMed:19306108). In the central nervous system, is a regulator of neurite outgrowth and neuronal plasticity, acting through the control of sulfate glycosaminoglycans and neurocan levels (By similarity).

Enzyme Numbers (IUBMB) for ARSB Gene

Phenotypes From GWAS Catalog for ARSB Gene

Gene Ontology (GO) - Molecular Function for ARSB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003943 N-acetylgalactosamine-4-sulfatase activity TAS --
GO:0004065 arylsulfatase activity TAS 2303452
GO:0008484 sulfuric ester hydrolase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ARSB: view
genes like me logo Genes that share phenotypes with ARSB: view

Human Phenotype Ontology for ARSB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ARSB Gene

MGI Knock Outs for ARSB:

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for ARSB Gene

Localization for ARSB Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARSB Gene

Lysosome. Cell surface.

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 ARSB gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
lysosome 5
golgi apparatus 3
mitochondrion 2
nucleus 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ARSB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005739 mitochondrion IEA --
GO:0005764 lysosome TAS 2303452
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005791 rough endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with ARSB: view

Pathways & Interactions for ARSB Gene

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

Gene Ontology (GO) - Biological Process for ARSB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0006914 autophagy IEA --
GO:0007040 lysosome organization TAS 1718978
GO:0007041 lysosomal transport TAS 2303452
GO:0007417 central nervous system development IEA --
genes like me logo Genes that share ontologies with ARSB: view

No data available for SIGNOR curated interactions for ARSB Gene

Drugs & Compounds for ARSB Gene

(10) Drugs for ARSB Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Chondroitin sulfate Approved, Investigational Nutra 0
Water Approved Pharma 0
calcium Approved Nutra 0
Chondroitin Nutra 48

(10) Additional Compounds for ARSB Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dermatan
  • b-Heparin
  • beta-Heparin
  • Chondroitin sulfate B
  • Chondroitin sulfate type B
  • Chondroitin sulphate B
24967-94-0
Sulfate
  • Sulfate (ion 2-)
  • Sulfate anion
  • Sulfate anion(2-)
  • Sulfate dianion
  • Sulfate ion
14808-79-8
genes like me logo Genes that share compounds with ARSB: view

Transcripts for ARSB Gene

Unigene Clusters for ARSB Gene

Arylsulfatase B:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for ARSB Gene

GeneLoc Exon Structure for
ARSB
ECgene alternative splicing isoforms for
ARSB

Expression for ARSB Gene

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

mRNA differential expression in normal tissues according to GTEx for ARSB Gene

This gene is overexpressed in Esophagus - Muscularis (x4.1).

Protein differential expression in normal tissues from HIPED for ARSB Gene

This gene is overexpressed in Bone marrow stromal cell (13.1), Heart (10.1), and Amniocyte (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ARSB Gene



NURSA nuclear receptor signaling pathways regulating expression of ARSB Gene:

ARSB

SOURCE GeneReport for Unigene cluster for ARSB Gene:

Hs.149103

Evidence on tissue expression from TISSUES for ARSB Gene

  • Liver(4.5)
  • Intestine(4.3)
  • Nervous system(4.3)
  • Kidney(2.4)
  • Heart(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ARSB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • ear
  • eye
  • face
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • pharynx
  • sinus
  • skull
  • tongue
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • liver
  • spleen
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • hair
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with ARSB: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for ARSB Gene

Orthologs for ARSB Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ARSB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARSB 33 34
  • 99.26 (n)
dog
(Canis familiaris)
Mammalia ARSB 33 34
  • 89.21 (n)
cow
(Bos Taurus)
Mammalia ARSB 33 34
  • 87.87 (n)
rat
(Rattus norvegicus)
Mammalia Arsb 33
  • 81.76 (n)
mouse
(Mus musculus)
Mammalia Arsb 33 16 34
  • 80.04 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ARSB 34
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ARSB 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARSB 33 34
  • 75.57 (n)
lizard
(Anolis carolinensis)
Reptilia ARSB 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arsb 33
  • 68.99 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100538007 33
  • 66.67 (n)
ARSB 34
  • 53 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG7402 35 33 34
  • 46.1 (n)
CG8646 35 34
  • 41 (a)
CG32191 34
  • 32 (a)
ManyToMany
CG7408 35 34
  • 28 (a)
worm
(Caenorhabditis elegans)
Secernentea sul-3 34
  • 33 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F03146g 33
  • 42.74 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 50 (a)
ManyToMany
-- 34
  • 45 (a)
ManyToMany
-- 34
  • 40 (a)
ManyToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBPB10D8.02c 33
  • 46.11 (n)
Species where no ortholog for ARSB 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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 ARSB Gene

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

Paralogs for ARSB Gene

Paralogs for ARSB Gene

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

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

Variants for ARSB Gene

Sequence variations from dbSNP and Humsavar for ARSB Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1005250580 uncertain-significance, Mucopolysaccharidosis type VI 78,778,110(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1019281287 uncertain-significance, Mucopolysaccharidosis type VI 78,779,407(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1065757 benign, not specified, Mucopolysaccharidosis type VI 78,885,654(-) C/A/G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1071598 benign, likely-benign, not specified, Mucopolysaccharidosis type VI 78,885,600(-) C/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs113059935 uncertain-significance, Mucopolysaccharidosis type VI 78,778,384(-) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
nsv955773 CNV deletion 24416366
nsv955769 CNV deletion 24416366
nsv823104 CNV loss 20364138
nsv598735 CNV gain 21841781
nsv598734 CNV gain 21841781
nsv598715 CNV loss 21841781
nsv598714 CNV loss 21841781
nsv525764 CNV loss 19592680
nsv515905 CNV loss 19592680
nsv509973 OTHER sequence alteration 20534489
nsv329776 CNV insertion 16902084
nsv1151436 CNV deletion 26484159
nsv1146045 CNV deletion 26484159
nsv1119529 CNV insertion 24896259
nsv1074313 CNV deletion 25765185
nsv1074312 CNV deletion 25765185
nsv1029181 CNV gain 25217958
esv995273 CNV deletion 20482838
esv991971 CNV deletion 20482838
esv8997 CNV loss 19470904
esv6759 CNV loss 19470904
esv3890658 CNV loss 25118596
esv3605518 CNV loss 21293372
esv3605517 CNV loss 21293372
esv3590 CNV loss 18987735
esv3570224 CNV loss 25503493
esv3570216 CNV loss 25503493
esv3566150 CNV deletion 23714750
esv3566149 CNV deletion 23714750
esv3566146 CNV deletion 23714750
esv3397702 CNV insertion 20981092
esv3384515 CNV duplication 20981092
esv3381908 CNV insertion 20981092
esv3377484 CNV insertion 20981092
esv3358127 CNV insertion 20981092
esv33559 CNV loss 17666407
esv33131 CNV loss 17666407
esv3309345 CNV mobile element insertion 20981092
esv3304605 CNV mobile element insertion 20981092
esv3292829 CNV deletion 24192839
esv32584 CNV loss 17666407
esv2762527 CNV gain 21179565
esv2730347 CNV deletion 23290073
esv2730346 CNV deletion 23290073
esv2730345 CNV deletion 23290073
esv26822 CNV loss 19812545
esv2677370 CNV deletion 23128226
esv2676226 CNV deletion 23128226
esv2657232 CNV deletion 23128226
esv26356 CNV loss 19812545
esv2522674 CNV deletion 19546169
esv2133112 CNV deletion 18987734
esv2028237 CNV deletion 18987734
esv1499345 CNV deletion 17803354
esv1155254 CNV insertion 17803354
esv1004159 CNV deletion 20482838
dgv9898n54 CNV gain 21841781
dgv9897n54 CNV gain+loss 21841781
dgv9896n54 CNV loss 21841781
dgv9895n54 CNV loss 21841781
dgv9894n54 CNV loss 21841781
dgv9893n54 CNV loss 21841781
dgv346n21 CNV gain 19592680
dgv3105n106 CNV deletion 24896259
dgv3104n106 CNV deletion 24896259
dgv199n6 CNV deletion 16902084
dgv1619e212 CNV loss 25503493
dgv1618e212 CNV loss 25503493
dgv147e180 CNV loss 20482838

Variation tolerance for ARSB Gene

Residual Variation Intolerance Score: 26.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.52; 95.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARSB Gene

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

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

Disorders for ARSB Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
mucopolysaccharidosis type vi
  • mps6
mucopolysaccharidosis type 6, slowly progressing
  • arylsulfatase b deficiency, slowly progressing
mucopolysaccharidosis type 6, rapidly progressing
  • arylsulfatase b deficiency, rapidly progressing
multiple sulfatase deficiency
  • msd
metachromatic leukodystrophy
  • mld
- elite association - COSMIC cancer census association via MalaCards
Search ARSB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ARSB_HUMAN
  • Mucopolysaccharidosis 6 (MPS6) [MIM:253200]: An autosomal recessive lysosomal storage disease characterized by intracellular accumulation of dermatan sulfate. Clinical features can include abnormal growth, short stature, stiff joints, skeletal malformations, corneal clouding, hepatosplenomegaly, and cardiac abnormalities. A wide variation in clinical severity is observed. {ECO:0000269 PubMed:10036316, ECO:0000269 PubMed:10738004, ECO:0000269 PubMed:11802522, ECO:0000269 PubMed:14974081, ECO:0000269 PubMed:1550123, ECO:0000269 PubMed:1718978, ECO:0000269 PubMed:8116615, ECO:0000269 PubMed:8125475, ECO:0000269 PubMed:8541342, ECO:0000269 PubMed:8651289}. 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 B activity is impaired in multiple sulfatase deficiency due to mutations in SUMF1. SUMF1 mutations result in defective post-translational modification of ARSB at residue Cys-91 that is not converted to 3-oxoalanine.

Additional Disease Information for ARSB

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 ARSB: view

No data available for Genatlas for ARSB Gene

Publications for ARSB Gene

  1. Phylogenetic conservation of arylsulfatases. cDNA cloning and expression of human arylsulfatase B. (PMID: 2303452) Peters C … von Figura K (The Journal of biological chemistry 1990) 2 3 4 22 58
  2. Arylsulfatase B regulates colonic epithelial cell migration by effects on MMP9 expression and RhoA activation. (PMID: 19306108) Bhattacharyya S … Tobacman JK (Clinical & experimental metastasis 2009) 3 4 22 58
  3. Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy. (PMID: 14974081) Karageorgos L … Hopwood JJ (Human mutation 2004) 3 4 22 58
  4. Mucopolysaccharidosis type VI: Report of two Taiwanese patients and identification of one novel mutation. (PMID: 11802522) Yang CF … Tsai FJ (Journal of the Formosan Medical Association = Taiwan yi zhi 2001) 3 4 22 58
  5. Maroteaux-lamy syndrome: five novel mutations and their structural localization. (PMID: 10036316) Villani GR … Di Natale P (Biochimica et biophysica acta 1999) 3 4 22 58

Products for ARSB Gene

Sources for ARSB Gene

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