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 altern... See more...

Aliases for ARSB Gene

Aliases for ARSB Gene

  • Arylsulfatase B 2 3 4 5
  • N-Acetylgalactosamine-4-Sulfatase 3 4
  • EC 3.1.6.12 4 52
  • 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 Metabolism of proteins and Innate Immune System. 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 ARSI.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification 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
GH05J078979 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 517.9 +3.7 3682 7.4 EP300 HNRNPK FOXK2 CTCF SIN3A NRF1 POLR2G USF1 SP1 NCOR1 ARSB NONHSAG040812.2 TENT2 ENSG00000213757 JMY BHMT RF00017-4751
GH05J078905 Enhancer 1.5 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 21.4 +78.6 78636 5 SP1 FOS ZIC2 ZBTB11 TRIM28 RELA RCOR1 POLR2A MXI1 ZNF341 ARSB lnc-DMGDH-2 piR-39341-308
GH05J078911 Enhancer 1.1 Ensembl ENCODE dbSUPER 23.4 +74.2 74192 1.5 USF1 RELA ZNF341 MYNN GATA3 CEBPG ZNF335 ZNF189 KLF17 SCRT1 ARSB LHFPL2 lnc-DMGDH-2 piR-39341-308
GH05J078889 Enhancer 1.2 Ensembl ENCODE dbSUPER 12.2 +97.4 97434 4.2 CTCF SP1 FOS EP300 JUND RELA RCOR1 RAD21 TRIM22 EZH2 ARSB LHFPL2 lnc-DMGDH-2 piR-39341-308
GH05J079020 Enhancer 0.7 ENCODE 15.9 -34.5 -34504 1.1 CTCF ZNF10 REST RAD21 TRIM22 SMC3 ZBTB17 MBD1 ZNF213 GATA3 ARSB BHMT BHMT2 ENSG00000214890 DMGDH
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARSB on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARSB

Top Transcription factor binding sites by QIAGEN in the ARSB gene promoter:
  • E47
  • Hand1
  • POU2F1
  • POU2F1a
  • YY1

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)
Size:
209,326 bases
Orientation:
Minus strand

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 Asn188, Asn279, Asn291, Asn366, Asn426, and Asn458
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

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 intracellular proteins

Protein Domains for ARSB Gene

Blocks:
  • Sulfatase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ARSB Gene

GenScript: Design optimal peptide antigens:
  • N-acetylgalactosamine-4-sulfatase (ARSB_HUMAN)

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

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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate.; EC=3.1.6.12;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by ethanol (By similarity).
GENATLAS Biochemistry:
arylsulfatase B,lysosomal,acting on dermatan sulfate,catalyzing the third step of degradation of glucosaminoglycans (mucopolysaccharides)

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 IEA,IDA 19306108
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:
  • Arsb Arsb<tm1Cptr>

Animal Model Products

CRISPR Products

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
lysosome 5
extracellular 4
endoplasmic reticulum 4
mitochondrion 3
golgi apparatus 3
plasma membrane 2
nucleus 2
endosome 2
cytosol 2
cytoskeleton 1
peroxisome 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:0006914 autophagy IEA --
GO:0007040 lysosome organization TAS 1718978
GO:0007041 lysosomal transport TAS 2303452
GO:0007417 central nervous system development IEA --
GO:0007584 response to nutrient 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

(11) Drugs for ARSB Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Chondroitin sulfate Approved, Investigational Nutra Enzyme, substrate 0
Water Approved Pharma 0
Calcium Approved Nutra 7884
Sulfate Experimental, Investigational Pharma 0
Chondroitin Pharma 71

(9) 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
genes like me logo Genes that share compounds with ARSB: view

Transcripts for ARSB Gene

mRNA/cDNA for ARSB Gene

2 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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

Expression for ARSB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for ARSB Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARSB

SOURCE GeneReport for Unigene cluster for ARSB Gene:

Hs.149103

Evidence on tissue expression from TISSUES for ARSB Gene

  • Liver(4.5)
  • Nervous system(4.4)
  • Intestine(4.3)
  • Kidney(2.5)
  • Heart(2.2)

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 31 30
  • 99.26 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ARSB 31 30
  • 89.21 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ARSB 31 30
  • 87.87 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arsb 30
  • 81.76 (n)
mouse
(Mus musculus)
Mammalia Arsb 17 31 30
  • 80.04 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ARSB 31
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ARSB 31
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARSB 31 30
  • 75.57 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARSB 31
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arsb 30
  • 68.99 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100538007 30
  • 66.67 (n)
ARSB 31
  • 53 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG7402 31 32 30
  • 46.1 (n)
ManyToMany
CG8646 31 32
  • 34 (a)
ManyToMany
CG32191 31
  • 32 (a)
ManyToMany
CG7408 31 32
  • 30 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea sul-3 31
  • 33 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F03146g 30
  • 42.74 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 50 (a)
ManyToMany
-- 31
  • 45 (a)
ManyToMany
-- 31
  • 40 (a)
ManyToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBPB10D8.02c 30
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ARSB: view image

Paralogs for ARSB Gene

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

  • ARSB_HUMAN
  • E5RHC4_HUMAN
genes like me logo Genes that share paralogs with ARSB: view

Variants for ARSB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARSB Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
559818 Pathogenic: Mucopolysaccharidosis type VI 78,884,528(-) ATGGCCTGAGGAAGTC SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT
638507 Likely Pathogenic: Mucopolysaccharidosis type VI 78,885,744(-) C/G MISSENSE_VARIANT
643401 Uncertain Significance: Mucopolysaccharidosis type VI 78,781,930(-) G/C MISSENSE_VARIANT
644772 Pathogenic: Mucopolysaccharidosis type VI 78,955,370(-) C/A NONSENSE
647674 Likely Pathogenic: Mucopolysaccharidosis type VI 78,780,560(-) T/TC FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for ARSB Gene

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

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

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ARSB Gene

MalaCards: The human disease database

(18) MalaCards diseases for ARSB Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, 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
metachromatic leukodystrophy
  • mld
multiple sulfatase deficiency
  • msd
- 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:19259130, 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 23 54
  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 23 54
  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 23 54
  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 23 54
  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 23 54

Products for ARSB Gene

Sources for ARSB Gene