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GBA Gene

protein-coding   GIFtS: 72
GCID: GC01M155204

Glucosidase, Beta, Acid

(Previous names: glucosylceramidase, glucosidase, beta; acid (includes glucosylceramidase))
(Previous symbol: GLUC)
  See GBA-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Glucosidase, Beta, Acid1 2     beta-GC2
GLUC1 2 3     beta-glucocerebrosidase2
glucosylceramidase1 2     imiglucerase2
Acid Beta-Glucosidase2 3     Lysosomal Glucocerebrosidase2
D-Glucosyl-N-Acylsphingosine Glucohydrolase2 3     Alglucerase3
EC 3.2.1.453 8     Beta-GC3
Glucosidase, Beta; Acid (Includes Glucosylceramidase)1     Beta-glucocerebrosidase3
GBA12     GC3
GCB2     Imiglucerase3
alglucerase2     

External Ids:    HGNC: 41771   Entrez Gene: 26292   Ensembl: ENSG000001776287   OMIM: 6064635   UniProtKB: P040623   

Export aliases for GBA gene to outside databases

Previous GC identifers: GC01P152907 GC01M150944 GC01M151962 GC01M152421 GC01M152017 GC01M153470 GC01M126557


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GBA Gene:
This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an
intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease
characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of
this gene on chromosome 1. Alternative splicing results in multiple transcript variants. (provided by RefSeq, Jan
2010)

GeneCards Summary for GBA Gene:
GBA (glucosidase, beta, acid) is a protein-coding gene. Diseases associated with GBA include lewy body dementia, and gaucher's disease. GO annotations related to this gene include glucosylceramidase activity and receptor binding.

summary for GBA Gene:
Glycosylases are a group of enzymes that includes glucosidases, mannosidases and heparanases. There are two
glucosidase subtypes, alpha- and beta-glucosidase (EC numbers 3.2.1.20 and 3.2.1.21 respectively), which are
both found in the gut. They hydrolyze terminal (1,4)alpha-glucosidic linkages and (1,6)beta-glucosidic
linkages, liberating alpha-glucose and beta-glucose respectively.

Gene Wiki entry for GBA (Glucocerebrosidase) Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GBA gene promoter:
         PPAR-gamma1   Bach2   Sox9   PPAR-gamma2   c-Myc   Arnt   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): GBA promoter sequence
   Search Chromatin IP Primers for GBA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GBA


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

Entrez Gene cytogenetic band: 1q21   Ensembl cytogenetic band:  1q22   HGNC cytogenetic band: 1q22

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M155204:  view genomic region     (about GC identifiers)

Start:
155,204,239 bp from pter      End:
155,214,653 bp from pter
Size:
10,415 bases      Orientation:
minus strand

1 alternative location:
Chr1-,NW_003315906 39,471-49,885     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GLCM_HUMAN, P04062 (See protein sequence)
Recommended Name: Glucosylceramidase precursor  
Size: 536 amino acids; 59716 Da
Subunit: Interacts with saposin-C. Interacts with SCARB2
Selected PDB 3D structures from and Proteopedia for GBA (see all 23):
1OGS (3D)        1Y7V (3D)        2F61 (3D)        2J25 (3D)        2NSX (3D)        2NT0 (3D)    
Secondary accessions: A8K796 Q16545 Q4VX22 Q6I9R6 Q9UMJ8
Alternative splicing, Alternative initiation: 3 isoforms:  P04062-1   P04062-2   P04062-3   (Produced by alternative splicing)

Explore the universe of human proteins at neXtProt for GBA: NX_P04062

Explore proteomics data for GBA at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn58, Asn98, Asn185, Asn309, Asn501
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for GBA (P04062) (see all 18)
     YTYADTP  GFLETISP  GLLLTLQP  YSIHTYLW 


    See GBA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_000148.2  NP_001005741.1  NP_001005742.1  NP_001165282.1  NP_001165283.1  

    ENSEMBL proteins: 
     ENSP00000357357   ENSP00000314508   ENSP00000402577   ENSP00000397986   ENSP00000445560  
    Reactome Protein details: P04062

    GBA Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for GBA
    OriGene MassSpec for GBA
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    Novus Biologicals GBA Proteins
    Novus Biologicals GBA Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for GBA 

    GBA Antibody Products:

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    GBA Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for GBA 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR017853 Glycoside_hydrolase_SF
     IPR001139 Glyco_hydro_30
     IPR013781 Glyco_hydro_catalytic_dom
     IPR013780 Glyco_hydro_13_b

    Graphical View of Domain Structure for InterPro Entry P04062

    ProtoNet protein and cluster: P04062

    1 Blocks protein domain: IPB001139 Glycosyl hydrolase family 30 signature

    UniProtKB/Swiss-Prot: GLCM_HUMAN, P04062
    Similarity: Belongs to the glycosyl hydrolase 30 family


    Find genes that share domains with GBA           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GLCM_HUMAN, P04062
    Catalytic activity: D-glucosyl-N-acylsphingosine + H(2)O = D-glucose + N-acylsphingosine
    Enzyme regulation: Requires saposin-C and anionic phospholipids for activity

         Genatlas biochemistry entry for GBA:
    glucosidase,beta,acid,55.6kDa,lysosomal hydrolyzing glucosylceramide,penultimate intermediate in the degradative
    pathway of complex glycolipids

         Enzyme Number (IUBMB): EC 3.2.1.451 2

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004348glucosylceramidase activity IDA19279011
    GO:0005102receptor binding ISS18022370
    GO:0005515protein binding IPI--
         
    Find genes that share ontologies with GBA           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for GBA:
     Upregulation of Wnt/beta-caten 

         14 MGI mutant phenotypes (inferred from 16 alleles(MGI details for Gba):
     behavior/neurological  cardiovascular system  cellular  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  integument  liver/biliary system  mortality/aging 
     nervous system  normal  respiratory system  skeleton 

    Find genes that share phenotypes with GBA           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for GBA: Gbatm1.1Clk Gbatm1.1Karl Gbatm2Karl Gbatm1Nsb

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GBA
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GBA

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GBA
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GBA

    miRNA
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    miRTarBase miRNAs that target GBA:
    hsa-mir-191-5p (MIRT045817)

    Block miRNA regulation of human, mouse, rat GBA using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate GBA:
    hsa-miR-221* hsa-miR-365 hsa-miR-331-3p hsa-miR-3670
    SwitchGear 3'UTR luciferase reporter plasmidGBA 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GBA
    Predesigned siRNA for gene silencing in human, mouse, rat GBA

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for GBA

    Clone
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    OriGene ORF clones in mouse, rat for GBA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): GBA (NM_001005742)
    Sino Biological Human cDNA Clone for GBA
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GBA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GBA

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for GBA 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GBA

    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-12367) for GBA 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GLCM_HUMAN, P04062: Lysosome membrane; Peripheral membrane protein; Lumenal side. Note=Interaction with
    saposin-C promotes membrane association. Targeting to lysosomes occurs through an alternative MPR-independent
    mechanism via SCARB2
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    endoplasmic reticulum2
    extracellular2
    endosome1
    golgi apparatus1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005765lysosomal membrane TAS--
    GO:0043202lysosomal lumen ISS18022370

    Find genes that share ontologies with GBA           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for GBA About    
    See pathways by source

    SuperPathContained pathways About
    1Sphingolipid metabolism
    Sphingolipid metabolism0.61
    Glycosphingolipid metabolism0.56
    Sphingolipid metabolism0.61
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3Other glycan degradation
    Other glycan degradation
    4Lysosome
    Lysosome


    Find genes that share SuperPaths with GBA           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for GBA
        Glycosphingolipid metabolism


    4 Kegg Pathways  (Kegg details for GBA):
        Other glycan degradation
    Sphingolipid metabolism
    Metabolic pathways
    Lysosome

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GBA
    Interactions:

        Search GeneGlobe Interaction Network for GBA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GBA (P040621, 2, 3 ENSP000003145084) via UniProtKB, MINT, STRING, and/or I2D (see all 68)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LAMP1P112792, 3, ENSP000003332984MINT-7555398 MINT-7555338 MINT-7555323 I2D: score=1 STRING: ENSP00000333298
    SCARB2Q141082, 3, ENSP000002648964MINT-4054731 I2D: score=1 STRING: ENSP00000264896
    LAMP2P134733, ENSP000004084114I2D: score=1 STRING: ENSP00000408411
    PSAPP076023, ENSP000003783944I2D: score=1 STRING: ENSP00000378394
    TCP1P179873, ENSP000003173344I2D: score=1 STRING: ENSP00000317334
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process IEA--
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006680glucosylceramide catabolic process IMP19279011
    GO:0006687glycosphingolipid metabolic process TAS--
    GO:0008219cell death IEA--

    Find genes that share ontologies with GBA           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for GBA
      Browse compounds at ApexBio 

    Compounds for GBA available from Tocris Bioscience    About this table
    CompoundAction CAS #
    KifunensineInhibitor of class I alpha-mannosidases[109944-15-2]
    1-DeoxynojirimycinGlucosidase I and II inhibitor[19130-96-2]
    1-Deoxymannojirimycin hydrochloridealpha-Mannosidase I inhibitor[73465-43-7]
    Miglitolalpha-glucosidase inhibitor[72432-03-2]
    OGT 2115Antiangiogenic. Heparanase inhibitor[853929-59-6]

    UniProtKB/Swiss-Prot: GLCM_HUMAN, P04062
    Pharmaceutical: Available under the names Ceredase and Cerezyme (Genzyme). Used to treat Gaucher's disease

    Selected HMDB Compounds for GBA (see all 115)    About this table
    CompoundSynonyms CAS #PubMed Ids
    1,4-beta-D-Glucan ----
    3-O-Sulfogalactosylceramide (d18:1/12:0)Sulfatide (d18:1/12:0) (see all 13)852100-88-0--
    3-O-Sulfogalactosylceramide (d18:1/14:0)Sulfatide (d18:1/14:0) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/16:0)Sulfatide (d18:1/16:0) (see all 13)862509-48-6--
    3-O-Sulfogalactosylceramide (d18:1/18:0)Sulfatide (d18:1/18:0) (see all 13)244215-65-4--
    3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))Sulfatide (d18:1/18:1(9Z)) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/20:0)Sulfatide (d18:1/20:0) (see all 13)265096-81-9--
    3-O-Sulfogalactosylceramide (d18:1/22:0)Sulfatide (d18:1/22:0) (see all 13)265096-83-1--
    3-O-Sulfogalactosylceramide (d18:1/24:0)Sulfatide (d18:1/24:0) (see all 16)151122-71-3--
    3-O-Sulfogalactosylceramide (d18:1/24:1(15Z))Sulfatide (d18:1/24:1(15Z)) (see all 13)151057-28-2--

    4 DrugBank Compounds for GBA    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    2-(Acetylamino)-2-Deoxy-a-D-Glucopyranose-- --target--17139284 17016423
    Myo-Inositol-- --target--17139284 17016423
    (2R,3R,4R,5S)-2-(HYDROXYMETHYL)-1-NONYLPIPERIDINE-3,4,5-TRIOL-- --target--10592235
    Velaglucerase alfaImiglucerase (see all 2)884604-91-5target--20336596

    Selected Novoseek inferred chemical compound relationships for GBA gene (see all 46)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glucosylceramide 93.4 91 8188616 (3), 11264150 (2), 11994410 (2), 19279011 (2) (see all 65)
    conduritol b epoxide 89.1 11 16125984 (1), 15817452 (1), 12401882 (1), 17881272 (1) (see all 5)
    glucosyl sphingosine 87.9 11 8188616 (3), 12649340 (1), 15649698 (1), 10926300 (1) (see all 6)
    miglustat 84 25 16039881 (6), 16285070 (4), 17433057 (4), 17609429 (2) (see all 10)
    brcbe 77.6 4 8163674 (1)
    4-methylumbelliferyl-beta-d-glucoside 72.1 2 8740577 (1), 15120640 (1)
    glycosphingolipid 70.4 5 10419477 (1), 10079102 (1), 15000829 (1), 17954913 (1)
    glycolipid 69.2 15 17217920 (1), 15605411 (1), 18586596 (1), 12173027 (1) (see all 14)
    collodion 66.3 1 10756347 (1)
    ceramide 62.9 33 19279011 (6), 15266399 (1), 19075603 (1), 17201413 (1) (see all 19)

    1 PharmGKB related drug/compound annotation for GBA gene    About this table
    Drug/compound PharmGKB Annotation
    velaglucerase alfa



    Find genes that share compounds with GBA           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for GBA gene (7 alternative transcripts): 
    NM_000157.3  NM_001005741.2  NM_001005742.2  NM_001171811.1  NM_001171812.1  NM_001005749.1  NM_001005750.1  

    Unigene Cluster for GBA:

    Glucosidase, beta, acid
    Hs.282997  [show with all ESTs]
    Unigene Representative Sequence: M16328
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368373(uc001fjh.3) ENST00000327247 ENST00000464536 ENST00000427500(uc010pfx.2 uc010pfw.2)
    ENST00000428024(uc001fjl.3 uc001fjk.3 uc010pfy.2 uc009wqk.2)
    ENST00000478472 ENST00000484489 ENST00000491081 ENST00000497670 ENST00000460156
    ENST00000493842 ENST00000473570 ENST00000467918 ENST00000470104 ENST00000536770

    miRNA
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    Block miRNA regulation of human, mouse, rat GBA using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate GBA:
    hsa-miR-221* hsa-miR-365 hsa-miR-331-3p hsa-miR-3670
    SwitchGear 3'UTR luciferase reporter plasmidGBA 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat GBA
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): GBA (NM_001005742)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GBA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GBA
    Primer
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    OriGene qPCR primer pairs and template standards for GBA
    OriGene qSTAR qPCR primer pairs in human, mouse for GBA
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GBA
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      QuantiFast Probe-based Assays in human, mouse, rat GBA
    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-12367) for GBA 

    Additional mRNA sequence: 

    AK291911.1 AK298900.1 AK300186.1 AK300829.1 AK300876.1 AK301374.1 AK301879.1 AK302000.1 
    AK311242.1 AK312502.1 BC003356.1 BX648487.1 D13286.1 K02920.1 M16328.1 M19285.1 

    Selected DOTS entries (see all 29):

    DT.100879420  DT.100736963  DT.119308  DT.92454161  DT.100879431  DT.99931020  DT.121449659  DT.97850581 
    DT.100031341  DT.121449656  DT.100734813  DT.100879434  DT.121449663  DT.449806  DT.92454150  DT.100879414 
    DT.100879426  DT.121449673  DT.100879423  DT.100879428  DT.121449567  DT.121449577  DT.91749412  DT.92038757 

    Selected AceView cDNA sequences (see all 503):

    BQ680411 BG674486 AX746490 AU131071 BP352164 N77014 BM760596 BX648487 
    M22212 BX281752 BX479589 CR610547 AU280719 BU542907 BU194317 BQ678522 
    BU179307 BM772392 CR606706 CF529918 CK821115 BQ013497 BU595424 D13286 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GBA (see all 14)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12
    SP1:                          -     -     -     -                       -     -     -                                                                           
    SP2:                                      -     -     -                 -     -     -                                                                           
    SP3:                                      -     -                       -     -     -                                                                           
    SP4:                                      -     -                       -     -     -                                                                           
    SP5:                          -     -     -     -     -                 -     -     -                                                                           


    ECgene alternative splicing isoforms for GBA

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GBA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGCTGTGTGC
    GBA Expression
    About this image


    GBA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    GBA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GBA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.282997
        Custom PCR Arrays for GBA
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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for GBA gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gba1 , 5 glucosidase, beta, acid1, 5 84.08(n)1
    86.6(a)1
      3 (39.01 cM)5
    144661  NM_001077411.11  NP_001070879.11 
     892029285 
    chicken
    (Gallus gallus)
    Aves LOC1017481711 glucosylceramidase-like 69.22(n)
    68.31(a)
      101748171  XM_004950360.1  XP_004950417.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 4)
    Uncharacterized protein
    (see all 4)
    61(a)
    54(a)
    (see all 4)
    1 ↔ many
    1 ↔ many
    (see all 4)
    GL344370.1(21-3960)
    GL344144.1(22650-33134)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.290012 Xenopus laevis transcribed sequence with weak similarity more 74.08(n)    CD361929.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gba1 glucosidase, beta, acid 61.54(n)
    57.69(a)
      559072  XM_682379.4  XP_687471.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG314146
    CG311486
    --
    31(a)
    31(a)
    1 ↔ many
    1 ↔ many
    3R(19530526-19533930)
    3R(19526360-19528324)
    worm
    (Caenorhabditis elegans)
    Secernentea Y4C6B.63
    gba-41
    gba-41 42(a)
    (best of 3)3
    48.72(n)1
    44.15(a)1
      IV(5344826-5351031)3
    1773141  NM_068384.41  NP_500785.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GBA gene

    Find genes that share paralogs with GBA           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for GBA
    PGOHUM00000262417


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GBA (see all 536)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs3680601,2,,4
    C,F,HGaucher disease (GD)4 pathogenic1161706350(+) AACAGG/CAGAGC 10 /P /A mis1 ese38Minor allele frequency- C:0.02NS EA NA WA 386
    rs10646511,2,,4
    C,FGaucher disease (GD)4 pathogenic1161706860(-) CCAAGG/CACACG 10 /H /D mis1 ese34Minor allele frequency- C:0.00MN NA 4724
    rs767637151,2,,4
    C,FGaucher disease 1 (GD1)4 pathogenic1161706976(+) GGAGGC/G/TTCTAG 15 N T S mis12NA EU 5871
    rs1494873151,2,,4
    C,FGaucher disease (GD)4 --161707402(+) TACTGC/TATCCC 10 I M mis11Minor allele frequency- T:0.00NA 4548
    rs22302881,2,,4
    C,F,HGaucher disease (GD)4 pathogenic1161707509(-) TAGGGG/AAGACA 10 /K /E mis112Minor allele frequency- A:0.01MN NS EA NA EU 6693
    rs3817371,2,,4
    C,FGaucher disease (GD)4 pathogenic1161709273(-) GATACT/ATTGTG 10 /I /F mis12Minor allele frequency- A:0.00NA 4554
    rs10646441,2,,4
    C,HGaucher disease (GD)4 pathogenic1161709324(-) AGGGGT/CCACTC 10 /P /S mis1 ese36Minor allele frequency- C:0.00MN NS EA NA 590
    rs3814271,2,,4
    C,HGaucher disease 1 (GD1)4 --161709338(-) AGCGGA/G/TGAATG 15 E G V mis1 ese37MN NS EA NA 592
    rs3814181,2,,4
    HGaucher disease (GD)4 --161709346(-) ACCAAT/GGGAGC 10 /K /N mis1 ese37Minor allele frequency- G:0.06MN NS EA NA 598
    rs3648971,2,,4
    C,F,HGaucher disease (GD)4 pathogenic1161709347(-) GACCAA/GTGGAG 10 N S mis1 ese37Minor allele frequency- T:0.01MN NS EA NA 566

    HapMap Linkage Disequilibrium report for GBA (155204239 - 155214653 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for GBA:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2421617CNV Duplication20811451
    nsv2999CNV Insertion18451855
    nsv436038CNV Insertion17901297
    dgv3n68CNV Loss17160897
    nsv470741CNV Loss18288195
    nsv872457CNV Loss21882294
    esv28935CNV Gain19812545
    nsv8469CNV Gain18304495
    nsv8480CNV Gain18304495
    dgv132e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): GBA
    Locus Specific Mutation Databases (LSDB): GBA

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GBA
    DNA2.0 Custom Variant and Variant Library Synthesis for GBA

    (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

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    OMIM gene information: 606463   
    OMIM disorders: 230800  230900  231000  231005  608013  168600  127750  
    UniProtKB/Swiss-Prot: GLCM_HUMAN, P04062
  • Gaucher disease (GD) [MIM:230800]: A lysosomal storage disease due to deficient activity of
    beta-glucocerebrosidase and characterized by accumulation of glucosylceramide in the reticulo-endothelial system.
    Different clinical forms are recognized depending on the presence (neuronopathic forms) or absence of central
    nervous system involvement, severity and age of onset. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Gaucher disease 1 (GD1) [MIM:230800]: A form of Gaucher disease characterized by hepatosplenomegaly with
    consequent anemia and thrombopenia, and bone involvement. The central nervous system is not involved. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Gaucher disease 2 (GD2) [MIM:230900]: The most severe form of Gaucher disease. It manifests soon after
    birth, with death generally occurring before patients reach two years of age. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Gaucher disease 3 (GD3) [MIM:231000]: A subacute form of neuronopathic Gaucher disease. It has later
    onset and slower progression compared to the acute form of neuronopathic Gaucher disease 2. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Gaucher disease 3C (GD3C) [MIM:231005]: A variant of subacute neuronopathic Gaucher disease 3 associated
    with cardiovascular calcifications. Note=The disease is caused by mutations affecting the gene represented in
    this entry
  • Gaucher disease perinatal lethal (GDPL) [MIM:608013]: Distinct form of Gaucher disease type 2,
    characterized by fetal onset. Hydrops fetalis, in utero fetal death and neonatal distress are prominent features.
    When hydrops is absent, neurologic involvement begins in the first week and leads to death within 3 months.
    Hepatosplenomegaly is a major sign, and is associated with ichthyosis, arthrogryposis, and facial dysmorphism.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Note=Perinatal lethal Gaucher disease is associated with non-immune hydrops fetalis, a generalized edema
    of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is
    not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety
    of disorders
  • Parkinson disease (PARK) [MIM:168600]: A complex neurodegenerative disorder characterized by
    bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic
    postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease involves
    the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal
    accumulations of aggregated proteins), in surviving neurons in various areas of the brain. The disease is
    progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are
    known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and
    genetic factors. However, some patients present with a positive family history for the disease. Familial forms of
    the disease usually begin at earlier ages and are associated with atypical clinical features. Note=Disease
    susceptibility may be associated with variations affecting the gene represented in this entry

  • Selected diseases for GBA (see all 21):    
    About MalaCards
    lewy body dementia    gaucher's disease    gaucher disease type 2    gaucher disease type 3
    gaucher disease, type iiic    gaucher disease perinatal lethal    parkinson disease, late-onset    gaucher disease type 1
    cholesteryl ester storage disease    chitotriosidase deficiency    adenosine deaminase deficiency    splenomegaly
    lrrk2-related parkinson disease    pancytopenia    corticobasal degeneration    lysosomal storage disease
    hypersplenism    fabry disease    hypoalphalipoproteinemia    parkinson disease 1

    7 diseases from the University of Copenhagen DISEASES database for GBA:
    Gaucher's disease     Parkinson's disease     Thrombocytopenia     Hypersplenism
    Fabry disease     Lewy body dementia     Anemia

    Find genes that share disorders with GBA           About GenesLikeMe

    Selected Novoseek inferred disease relationships for GBA gene (see all 52)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gaucher disease 99 508 2198026 (7), 1379912 (5), 11783951 (3), 8030654 (3) (see all 99)
    type 1 gaucher disease 97.9 127 9512964 (4), 7769902 (4), 2223847 (3), 19265748 (3) (see all 73)
    gaucher disease, type i 96 55 12645190 (2), 2315324 (1), 8118463 (1), 8588848 (1) (see all 50)
    type 2 gaucher disease 95.6 17 11958535 (2), 10223617 (1), 15214004 (1), 16859193 (1) (see all 14)
    type 3 gaucher disease 93.7 14 11600137 (3), 9382473 (2), 15261378 (2), 11295718 (1) (see all 9)
    neuronopathic gaucher disease 91.6 8 17065591 (3), 15786474 (2), 18627336 (1), 12595585 (1)
    lysosomal storage diseases 89.4 40 8612670 (1), 16923570 (1), 18228684 (1), 19167257 (1) (see all 35)
    sphingolipidoses 86.9 9 15937950 (1), 15146461 (1), 19857976 (1), 1776640 (1) (see all 7)
    gaucher disease, type ii 78.1 3 18245815 (1), 11550412 (1)
    enzyme deficiency 68 4 11994410 (1), 8934230 (1), 9315031 (1)

    Genatlas disease: GBA
    hydrops fetalis

    GeneTests: GBA
    GeneReviews: GBA
    Genetic Association Database (GAD): GBA
    Human Genome Epidemiology (HuGE) Navigator: GBA (56 documents)

    Export disorders for GBA 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)
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    PubMed articles for GBA gene, integrated from 10 sources (see all 694):
    (articles sorted by number of sources associating them with GBA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. (PubMed id 19286695)1, 2, 4, 9 Neumann J.... Wood N.W. (Brain 2009)
    2. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. (PubMed id 19846850)1, 2, 4, 9 Sidransky E.... Ziegler S.G. (N. Engl. J. Med. 2009)
    3. Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. (PubMed id 18332251)1, 2, 4, 9 Mata I.F.... Zabetian C.P. (Arch. Neurol. 2008)
    4. Mutations in the glucocerebrosidase gene and Parkinson disease: phenotype-genotype correlation. (PubMed id 16148263)1, 2, 4, 9 Aharon-Peretz J.... Gershoni-Baruch R. (Neurology 2005)
    5. Structural analysis of the human glucocerebrosidase genes. (PubMed id 3359914)1, 2, 3 Reiner O.... Horowitz M. (DNA 1988)
    6. Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset. (PubMed id 18987351)1, 4, 9 Nichols W.C....Foroud T. (Neurology 2009)
    7. Mutations in the Parkinson's disease genes, Leucine Rich Repeat Kinase 2 (LRRK2) and Glucocerebrosidase (GBA), are not associated with essential tremor. (PubMed id 19527940)1, 4, 9 Clark L.N....Louis E.D. (amp 2010)
    8. Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease. (PubMed id 9331372)1, 2, 9 Winfield S.L.... Sidransky E. (Genome Res. 1997)
    9. Association of glucocerebrosidase mutations with dementia with lewy bodies. (PubMed id 19433657)1, 4, 9 Clark L.N....Marder K. (Arch. Neurol. 2009)
    10. Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease. (PubMed id 17462935)1, 4, 9 Ziegler S.G....Sidransky E. (Mol. Genet. Metab. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2629 HGNC: 4177 AceView: GBA Ensembl:ENSG00000177628 euGenes: HUgn2629
    ECgene: GBA Kegg: 2629 H-InvDB: GBA

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GBA Pharmacogenomics, SNPs, Pathways
    Ceredasehttp://www.rxlist.com/ceredase-drug.htm
    Cerezymehttp://www.rxlist.com/cerezyme-drug.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GBA[genesymbol]

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

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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