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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ARSH Gene

protein-coding   GIFtS: 46
GCID: GC0XP002919

arylsulfatase family, member H

(Previous name: arylsulfatase H )
 Explore 56 diseases affiliated with
ARSH via our new
 Human Malady Compendium 
Biological research products
for ARSH
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Arylsulfatase Family, Member H1 2     EC 3.1.6.-3
Arylsulfatase H1 2     EC 3.1.68
ASH2 3     EC 3.1.6.28
Sulfatase1     

External Ids:    HGNC: 324881   Entrez Gene: 3475272   Ensembl: ENSG000002056677   OMIM: 3005865   UniProtKB: Q5FYA83   

Export aliases for ARSH gene to outside databases

Previous GC identifer: GC0XP000867


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ARSH:
Sulfatases, such as ARSH, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and
glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of
macromolecules (Sardiello et al., 2005 (PubMed 16174644)).(supplied by OMIM, Mar 2008)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_167197.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ARSH gene promoter:
         p53   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidARSH promoter sequence
   Search SABiosciences Chromatin IP Primers for ARSH

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ARSH


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp22.33   Ensembl cytogenetic band:  Xp22.33   HGNC cytogenetic band: Xp22.33

ARSH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARSH gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP002919:  view genomic region     (about GC identifiers)

Start:
2,924,654 bp from pter      End:
2,951,612 bp from pter
Size:
26,959 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ARSH_HUMAN, Q5FYA8 (See protein sequence)
Recommended Name: Arylsulfatase H  
Size: 562 amino acids; 63525 Da
Cofactor: Binds 1 calcium ion per subunit (By similarity)
Subcellular location: Membrane; Multi-pass membrane protein (Potential)

Explore the universe of human proteins at neXtProt for ARSH: NX_Q5FYA8

Post-translational modifications:

  • 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 (By similarity)1
  • View neXtProt modification sites for NX_Q5FYA8

  • 4/6 DME Specific Peptides for ARSH (Q5FYA8) (see all 6)
     NGIYKGG  HDPPLLFD  AFLTGRYP  HEFLFHYC 

    ARSH Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001011719.1  
    ENSEMBL proteins: 
     ENSP00000370522  
    Reactome Protein details: Q5FYA8
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    Novus Biologicals ARSH Lysate
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    Uscn Proteins for ARSH

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005788endoplasmic reticulum lumen TAS--
    GO:0016021integral to membrane IEA--


    ARSH for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ARSH for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR000917 Sulfatase
     IPR017849 Alkaline_Pase-like_a/b/a
     IPR024607 Sulfatase_CS
     IPR017850 Alkaline_phosphatase_core

    Graphical View of Domain Structure for InterPro Entry Q5FYA8

    ProtoNet protein and cluster: Q5FYA8

    1 Blocks protein family: IPB000917 Sulfatase

    UniProtKB/Swiss-Prot: ARSH_HUMAN, Q5FYA8
    Similarity: Belongs to the sulfatase family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Enzyme Numbers (IUBMB): EC 3.1.6.-1 EC 3.1.6.22 EC 3.1.62

    miRNA
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004065arylsulfatase activity TAS16174644
    GO:0046872metal ion binding IEA--


    ARSH for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Sphingolipid metabolism
    Sphingolipid metabolism1.00
    Glycosphingolipid metabolism0.54
    2PTM: gamma carboxylation, hypusine formation and arylsulfatase activation
    PTM: gamma carboxylation, hypusine formation and arylsulfatase activation1.00
    The activation of arylsulfatases0.46
    3Metabolism
    Metabolism1.00
    Metabolism of lipids and lipoproteins0.34
    4Asparagine N-linked glycosylation
    Post-translational protein modification0.44
    Metabolism of proteins0.15

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/8        Reactome Pathways for ARSH (see all 8)
        Sphingolipid metabolism
    Glycosphingolipid metabolism
    Metabolism
    PTM: gamma carboxylation, hypusine formation and arylsulfatase activation
    Metabolism of proteins



    ARSH for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ARSH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/11 Interacting proteins for ARSH (ENSP000003705224) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARSAENSP000002161244STRING: ENSP00000216124
    ARSBENSP000002649144STRING: ENSP00000264914
    ARSDENSP000003705464STRING: ENSP00000370546
    ARSEENSP000003705264STRING: ENSP00000370526
    ARSFENSP000003523194STRING: ENSP00000352319
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006644phospholipid metabolic process TAS--
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006687glycosphingolipid metabolic process TAS--
    GO:0043687post-translational protein modification TAS--
    GO:0044267cellular protein metabolic process TAS--


    ARSH for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ARSH for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ARSH

    1 HMDB Compound for ARSH    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    10/77 Novoseek chemical compound relationships for ARSH gene (see all 77)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    formylglycine 97 61 18305113 (4), 14563551 (3), 9497327 (3), 16399355 (2) (see all 28)
    estrone sulfate 90.3 25 2375600 (2), 8338787 (2), 2298851 (1), 12711003 (1) (see all 19)
    medrogestone 88.7 12 10529001 (2), 12227886 (1), 19179024 (1), 10419004 (1) (see all 11)
    promegestone 88.1 10 12227886 (1), 19179024 (1), 10862262 (1), 19962254 (1) (see all 10)
    p-nitrocatechol sulfate 88 1 8824834 (1)
    estrone 87.8 29 9009236 (3), 9096642 (2), 17064891 (2), 15302278 (1) (see all 22)
    17beta-hydroxysteroid 87.6 30 20204307 (4), 10862262 (2), 15274306 (2), 11384867 (2) (see all 22)
    nomegestrol acetate 86.9 15 16080533 (3), 15748827 (2), 12227886 (1), 19179024 (1) (see all 12)
    4-methylumbelliferyl sulfate 85.2 4 11177574 (2), 8920232 (1)
    1-menaphthyl sulfate 84.7 1 10548067 (1)

    Search CenterWatch for drugs/clinical trials and news about ARSH 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ARSH gene: 
    NM_001011719.1  

    Unigene Cluster for ARSH:

    Arylsulfatase family, member H
    Hs.351533  [show with all ESTs]
    Unigene Representative Sequence: AY875940
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000381130(uc011mhj.2)

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    Additional cDNA sequence: AY875940.1 

    1 DOTS entry:

    DT.95307360 

    6 AceView cDNA sequences:

    CK904764 CK904763 BM069810 AX801696 BM069570 AI868403 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ARSH expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See ARSH Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.351533
        SABiosciences Custom PCR Arrays for ARSH
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for ARSH gene from 4/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ARSD1 arylsulfatase D 69.32(n)
    68.66(a)
      418658  XM_416855.2  XP_416855.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    59(a)
    42(a)
    1 ↔ many
    possible ortholog
    3(113939534-113952673)
    GL344984.1(10385-13196)
    zebrafish
    (Danio rerio)
    Actinopterygii arsh6
    arylsulfatase H
    49(a)
    1 → many
    9(57794391-57813088)
    E. coli
    (Escherichia coli)
    Gamma proteobacteria ydeN6
    aslA6
    acrylsulfatase-like enzyme
    18(a)
    17(a)
    possible ortholog
    1 ↔ many
    Chromosome(1578866-1580548)
    Chromosome(3982375-3984030)


    ENSEMBL Gene Tree for ARSH (if available)
    TreeFam Gene Tree for ARSH (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ARSH gene
    ARSF2  ARSJ2  ARSI2  ARSG2  ARSA2  STS2  ARSB2  GALNS2  
    ARSE2  ARSD2  
    5 SIMAP similar genes for ARSH using alignment to 1 protein entry:     ARSH_HUMAN:
    ARSD    ARSE    ARSF    STS    IDS

    ARSH for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/473 NCBI SNPs in ARSH are shown (see all 473    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs59394031,2
    C,A,--2922687(+) GTTTCC/TTTTCT 1 -- us2k1 trp30--------
    rs2019067811,2
    --2922924(+) ACACA-/CACC  
            
    CCTAT
    1 -- us2k10--------
    rs1402313981,2
    --2922925(+) CACACA/TCCCCT 1 -- us2k10--------
    rs1411683511,2
    --2923014(+) GGCGCA/GATCTT 1 -- us2k10--------
    rs1837865011,2
    --2923235(+) ACAGGC/TGCGTG 1 -- us2k10--------
    rs1124698151,2
    C,--2923300(+) TGTCAA/GGCTGG 1 -- us2k12Minor allele frequency- G:0.33NA WA 3
    rs1877512001,2
    --2923375(+) ATGAGA/CCACTG 1 -- us2k10--------
    rs1911178801,2
    --2923377(+) GAGCCA/CCTGTG 1 -- us2k10--------
    rs1113814441,2
    C,--2923439(+) TGAGAC/G/TAGGGT 1 -- us2k11NA 1
    rs1868224851,2
    --2923466(+) AGCTGA/GAGTGC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ARSH (2924654 - 2951612 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for ARSH
         4 CNVs: 7778 3260 8293 4142

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ARSH for disorders           About GeneDecksing

    OMIM gene information: 300586    OMIM disorders: --

    20/56 diseases for ARSH (see all 56):    About MalaCards
    beta-ketothiolase deficiency    estrogen-receptor positive breast cancer    x-linked ichthyosis    chondrodysplasia punctata
    lysosomal storage disease    ketothiolase deficiency    mucopolysaccharidosis vi    metachromatic leukodystrophy
    mucopolysaccharidosis    non-hodgkin lymphoma    leukodystrophy    mucolipidosis ii
    ichthyosis    autonomic dysfunction    spondyloepiphyseal dysplasia    mucolipidosis
    chondrodysplasia    gaucher's disease    retinal degeneration    breast fibroadenoma

    10/33 Novoseek disease relationships for ARSH gene (see all 33)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    multiple sulfatase deficiency 98.2 118 9336808 (4), 9880143 (4), 2127527 (3), 11315200 (3) (see all 50)
    leukodystrophy metachromatic 82.2 7 15446395 (1), 16600651 (1), 1687673 (1), 7584110 (1) (see all 6)
    mucopolysaccharidosis 78.1 8 12649064 (2), 2127527 (1), 11737681 (1), 10082381 (1) (see all 7)
    ichthyosis x-linked 77.8 2 1840419 (1), 18157819 (1)
    morquios syndrome 71.2 2 2127527 (1), 16133273 (1)
    maroteaux-lamy syndrome 71.2 4 2127527 (1), 1687673 (1), 8541342 (1)
    mps iiia 70 3 2127527 (1), 10561464 (1), 16600651 (1)
    chondrodysplasia punctata 69.2 3 17206939 (1), 15246527 (1)
    lysosomal storage diseases 69 9 1348358 (1), 17360554 (1), 14563551 (1), 10561464 (1) (see all 6)
    hunters syndrome 68.3 2 17206939 (1)


    Export disorders for ARSH gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ARSH gene, integrated from 9 sources (see all 307):
    (articles sorted by number of sources associating them with ARSH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship. (PubMed id 16174644)1, 2, 3, 9 Sardiello M....Ballabio A. (2005)
    2. SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies. (PubMed id 17206939)9 Fraldi A....Cosma M.P. (2007)
    3. Estrone sulfatase activity in patients with advanced ovarian cancer. (PubMed id 18947862)9 Chura J.C....Argenta P.A. (2009)
    4. Multiple sulfatase deficiency: catalytically inactive sulfatases are expressed from retrovirally introduced sulfatase cDNAs. (PubMed id 1348358)9 Rommerskirch W. and von Figura K. (1992)
    5. A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency. (PubMed id 7628016)9 Schmidt B.... von Figura K. (1995)
    6. Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency. (PubMed id 17360554)9 Settembre C....Ballabio A. (2007)
    7. Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene. (PubMed id 17657823)9 Annunziata I....Ballabio A. (2007)
    8. A new type of bacterial sulfatase reveals a novel maturation pathway in prokaryotes. (PubMed id 16766528)9 Berteau O....Rabot S. (2006)
    9. Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency. (PubMed id 15146462)9 Cosma M.P.... Ballabio A. (2004)
    10. Sulfatases: structure, mechanism, biological activity, inhibition, and synthetic utility. (PubMed id 15493058)9 Hanson S.R....Wong C.H. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 347527 HGNC: 32488 AceView: LOC347527 Ensembl:ENSG00000205667 euGenes: HUgn347527
    ECgene: ARSH H-InvDB: ARSH

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ARSH Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ARSH gene:
    Search GeneIP for patents involving ARSH

    GeneCards and IP:
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