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BTC Gene

protein-coding   GIFtS: 62

GC04M075889
betacellulin
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
OTTHUMP00000160600 2
betacellulin 2
External Ids
HGNC: 11211
Entrez Gene: 6852
UniProtKB: P350703
Ensembl: ENSG000001748087
Search outside databases for aliases for BTC gene

Previous GC identifers: GC04M075557 GC04M075843 GC04M076062 GC04M076128 GC04M076129 GC04M076027

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for BTC:
The protein encoded by this gene is a member of the EGF family of growth factors. It is synthesized
primarily as a transmembrane precursor, which is then processed to mature molecule by proteolytic
events. This protein is a ligand for the EGF receptor. [provided by RefSeq]

UniProtKB/Swiss-Prot: BTC_HUMAN, P35070
Function: Potent mitogen for retinal pigment epithelial cells and vascular smooth muscle cells. The
effects of betacellulin are probably mediated by the EGF receptor and other related receptors

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the BTC gene  

Entrez Gene cytogenetic band: 4q13-q21   Ensembl cytogenetic band:  4q13.3   HGNC cytogenetic band: 4q13-q21

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

GeneLoc gene densities for chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M075889:     (about GC identifiers)

Start:
75,888,993 bp from pter
End:
75,938,920 bp from pter
Size:
49,928 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000004.10  NT_016354.18  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: BTC_HUMAN, P35070 (See protein sequence)
Recommended Name: Probetacellulin precursor  
Size: 178 amino acids; 19746 Da
Subunit: Monomer
Subcellular location: Betacellulin: Secreted, extracellular space
Subcellular location: Probetacellulin: Cell membrane; Single-pass type I membrane protein
PDB structure from and Proteopedia :
1IOX (3D)    1IP0 (3D)    
Secondary accessions: Q96F48

REFSEQ proteins: NP_001720.1  

ENSEMBL proteins: 
ENSP00000379092 ENSP00000312050 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Sigma-Aldrich Proteins for BTC  
R&D Systems Recombinant & Natural Proteins for BTC (Betacellulin)
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (Betacellulin)
Human Recombinant Proteins from Abnova (BTC)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

4 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005576 extracellular region IEA--
GO:0005625 soluble fraction TAS8144591
GO:0005886 plasma membrane IEA--
GO:0016021 integral to membrane IEA--
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Antibodies for BTC: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for BTC
R&D Systems Antibodies for BTC (Betacellulin)
Antibodies from Abcam (Betacellulin), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (BTC)
Novus Biologicals Antibodies for BTC

Assays for BTC: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
R&D Systems ELISAs for BTC (Betacellulin)         (see all)
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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5/6 InterPro domains/families (see all 6 ):
 IPR015497 EGF_rcpt_ligand
 IPR000742 EGF_3
 IPR013032 EGF-like_reg_CS
 IPR001336 EGF_1
 IPR006209 EGF


   GeneDecks  BTC for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry P35070

ProtoNet protein and cluster: P35070

2 Blocks protein families:
IPB001336 Type I EGF signature
IPB006210 Type I EGF


UniProtKB/Swiss-Prot: BTC_HUMAN, P35070
Similarity: Contains 1 EGF-like domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (BTC)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001729

              Applied Biosystems Silencer® siRNAs for BTC

              Sigma-Aldrich siRNA and siRNA Panels for BTC  
                     Sigma-Aldrich shRNA for BTC  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for BTC
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_001729
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_001729
                                 untagged cDNA clone in CMV expression vector: NM_001729 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_001729

UniProtKB/Swiss-Prot: BTC_HUMAN, P35070
Function: Potent mitogen for retinal pigment epithelial cells and vascular smooth muscle cells. The
effects of betacellulin are probably mediated by the EGF receptor and other related receptors

Genatlas biochemistry entry for BTC:
betacellulin,ECF family

7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Btc):

growth/sizehomeostasis/metabolismlife span-post-weaning/agingmuscle
normalskeleton

2 Gene Ontology (GO) molecular function terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005154 epidermal growth factor receptor binding TAS8144591
GO:0008083 growth factor activity TAS8439318
About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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2 Invitrogen iPath™ Online BioAtlas - Pathways for BTC (Maps provided by GeneGo):
 EGF signaling pathway
 ERBB-family signaling

   GeneDecks  BTC for the pathways selected above  
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2 Millipore Pathways for BTC
 Development ERBB-family signaling
 Development EGFR signaling pathway

   GeneDecks  BTC for the pathways selected above  
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for  BTC  (Your Favorite Gene powered by Ingenuity) 
 Neuregulin Signaling

   GeneDecks  BTC for the pathways selected above  
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1 Kegg Pathway  (Kegg details for BTC):
 hsa04012 ErbB signaling pathway

   GeneDecks  BTC for the pathways selected above  
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 Gene Network CentralTM Interacting Genes and Proteins Network for  BTC 


5/11 Interacting proteins for BTC (ENSP000003120503) via UniProtKB, MINT, and/or STRING (see all 11 )
InteractantInteraction Details
GeneCardExternal ID(s)
EGFRENSP000002754933STRING (score=.999)
ERBB4ENSP000003422353STRING (score=.997)
ERBB2ENSP000002695713STRING (score=.902)
ERBB3ENSP000002671013STRING (score=.819)
EGFLAMENSP000003469643STRING (score=.816)
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2 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0008284 positive regulation of cell proliferation TAS8144591
GO:0043066 negative regulation of apoptosis IEA--
About this table
(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for BTC
10 Novoseek chemical compound relationships for BTC gene
Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
tyrosine 55.23 15 15192046 (3), 9334263 (2), 9662041 (1), 10579352 (1) (see all 10)
pd 98,059 41.11 2 12475887 (2)
wortmannin 40.92 2 12475887 (2)
phosphatidylinositol 38.35 3 8626392 (1), 12475887 (1), 16487738 (1)
matrigel 27.53 1 12475887 (1)
c-peptide 14.56 1 15939230 (1)
glucose 9.02 11 17479438 (2), 11118003 (2), 15939230 (1), 17989064 (1) (see all 6)
progesterone 3.17 2 16543407 (1)
calcium 0.00 1 8144591 (1)
thymidine 0.00 1 11254912 (1)
About this table


(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (BTC)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001729

              Sigma-Aldrich siRNA and siRNA Panels for BTC  
                     Sigma-Aldrich shRNA for BTC  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_001729  

REFSEQ mRNAs for BTC gene: 

NM_001729.2   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_001729  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_001729
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_001729
                                 untagged cDNA clone in CMV expression vector: NM_001729 

Additional cDNA sequence: 

AB109441.1 S55606.1 

2 DOTS entries:

DT.204260  DT.92416550 

18 AceView cDNA sequences:

AB109441 BX493533 AA917900 BE899442 NM_001729 AI822020 CB121982 S55606 
BC011618 AI792829 BX646859 AI277656 BG194271 AI766016 BF382080 BI552049 
AW129759 BI758136 

highest scoring ESTs for BTC:

S55606 AA917900 AB109441 AI766016 AI792829 AI822020 BC011618 BE899442 BX493533 AA148418 

Unigene Cluster for BTC:

Betacellulin
Hs.710156  [show with all ESTs]
Unigene Representative Sequence: NM_001729


GeneLoc Exon Structure

2 Ensembl transcripts including schematic representations:
ENST00000395743  ENST00000311727  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

BTC expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for BTC

1 / 2 / 3

6 probe-sets matching BTC gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
83477_at2, 3 U95-E 1 1.00 1.00 0.92 1.47 AW003768 0.60 1.00 0.82 1

33975_at2, 3 U95-A 1 1.00 1.00 0.90 0.55 S55606 1.00 1.00 1.00 1

241412_at2, 3 U133-B 1 1.00 1.00 -- -- AI620677 0.40 1.00 0.76 1

207326_at2, 3 U133-A 1 1.00 1.00 -- -- NM_001729 0.60 1.00 0.82 1

207326_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

241412_at2 U133Plus2 1 0.46 1.00 -- -- -- -- -- -- --
GeneDecks  BTC for binary patterns associated with the probe-sets selected above  
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About this table    
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: AGATAGCTAT

SOURCE GeneReport for Unigene cluster: Hs.710156

Expression variation in blood from EXPOLDB for BTC

UniProtKB/Swiss-Prot: BTC_HUMAN, P35070
Tissue specificity: Synthesized in several tissues and tumor cells. Predominantly expressed in
pancreas and small intestine

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for BTC gene from 5/7 species (see all 7 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
BTC1   -- betacellulin 83.74(n)
81.71(a)
482682  XM_539798.2  XP_539798.2 
chimpanzee
(Pan troglodytes)
BTC1   -- betacellulin 99.25(n)
97.75(a)
461250  XM_517223.2  XP_517223.2 
cow
(Bos taurus)
BTC1   -- betacellulin 89.51(n)
88.2(a)
280737  NM_173896.1  NP_776321.1 
rat
(Rattus norvegicus)
Btc1   -- betacellulin 80.23(n)
78.53(a)
64022  NM_022256.1  NP_071592.1 
mouse
(Mus musculus)
Btc1, 5 5 (51.00 cM)5
betacellulin, epidermal growth factor family member1, 5 80.41(n)1
79.66(a)1
122231  NM_007568.31  NP_031594.11 
 AF3680175  AF3680185  (see all 16)
About this table        Species with no ortholog for BTC

ENSEMBL Gene Tree for BTC
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for BTC gene
TGFA2  C9orf302  TMEFF22  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/360 NCBI SNPs in BTC are shown (see all 360 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 140)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 4 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs14523081,2
C,F,H75939175(-) CCACAA/GTGAAT 1 -- ng314Minor allele frequency- G:0.03EU EA WA 394
rs119380931,2
C,F,H75894865(+) TATCAA/TACAAA 1 L/M mis19Minor allele frequency- T:0.17EU EA WA NA 898
rs22788621,2
C,F75938785(-) GGGATA/GAATAG 1 -- ut513Minor allele frequency- G:0.31EA NA 1664
--
rs68564551,2
A,C75938970(+) TCCCTA/CCCCCC 1 -- ng310--------
rs285497601,2
C,F75938541(+) GCTGCA/CCCGGG 1 C/G mis1 ese35Minor allele frequency- C:0.47NA EU EA WA 494
--
rs13770311,2
A,C75939495(-) cttttC/Tttttt 1 -- ng31 trp30--------
rs131013361,2
A,C75939947(+) GTTAAA/GTAAAT 1 -- ng310--------
--
rs117339381,2
A,C75940718(+) TTTTTC/TCCCTC 1 -- ng31 trp30--------
rs14523061,2
C,O75939567(-) TTTTAC/TGAATT 1 -- ng310--------
rs286903411,2
C75938792(+) TCCCCC/GCTCCT 1 -- ut51 trp30--------
About this table

HapMap Linkage Disequilibrium images for BTC (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 600345

UniProtKB/Swiss-Prot: BTC_HUMAN, P35070
  • Betacellulin from beta cells could play a role in the vascular complications associated
    with diabetes
  • 10/15 Novoseek disease relationships for BTC gene (see all 15 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    insulinoma 56.78 14 8439318 (2), 10724350 (2), 8283650 (1), 17260022 (1) (see all 6)
    hnscc 53.73 8 15197768 (3), 11072245 (1), 10706134 (1), 11235991 (1)
    gastrointestinal tumor 37.52 2 14530681 (1), 12790326 (1)
    carcinoma squamous cell 20.00 3 15197768 (1), 8144591 (1), 10706134 (1)
    breast carcinoma 17.19 1 9312020 (1)
    tumors 14.84 13 16949929 (5), 10601546 (2), 18289051 (1), 10797281 (1) (see all 5)
    pancreatic cancer 12.28 9 10601546 (6), 8980184 (1)
    endometrial cancer 10.28 2 16962163 (1), 10537356 (1)
    breast cancer 7.01 4 18949710 (1), 10022523 (1), 19026613 (1), 17962208 (1)
    carcinoma 4.76 6 9648926 (1), 11439355 (1), 8144591 (1), 8630011 (1) (see all 5)
    About this table

    Human Gene Mutation Database: BTC
    Genetic Association Database: BTC
    Human Genome Epidemiology Navigator: BTC (7 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

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

    10/138 PubMed articles for BTC gene (see all 138 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    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, and/or H-InvDB)
    About This Section

    Entrez Gene: 685 HGNC: 1121 AceView: BTC Ensembl:ENSG00000174808 euGenes: HUgn685
    ECgene: BTC H-InvDB: BTC
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for BTC:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Explore super-pooled esiRNAs Proteins for BTC
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     "Your Favorite Gene" Pathwaysfeedback


      
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     Recombinant & Natural Proteins  

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     Custom Service for Rabbit Pab from Full-length Protein
      
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     Recombinant Proteins
    (Betacellulin)
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     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Antibodies for BTC

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