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PTH Gene

protein-coding   GIFtS: 65

GC11M013470
parathyroid hormone
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
PTH1 1, 2
Parathormone 3
Parathyrin 3
parathormone 2
parathyrin 2
Descriptions
parathyroid hormone 2
parathyroid hormone 1 2
External Ids
HGNC: 96061
Entrez Gene: 57412
UniProtKB: P012703
Ensembl: ENSG000001522667
Search outside databases for aliases for PTH gene

Previous GC identifers: GC11M014784 GC11M014262 GC11M013552 GC11M013477

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for PTH:
The protein encoded by this gene is a hormone secreted by parathyroid cells. This hormone elevates
blood Ca2+ level by dissolving the salts in bone and preventing their renal excretion. Defects in
this gene are a cause of familial isolated hypoparathyroidism (FIH). [provided by RefSeq]

UniProtKB/Swiss-Prot: PTHY_HUMAN, P01270
Function: PTH elevates calcium level by dissolving the salts in bone and preventing their renal
excretion

Gene Wiki entry for PTH (Parathyroid_hormone)

(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)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the PTH gene  

Entrez Gene cytogenetic band: 11p15.3-p15.1   Ensembl cytogenetic band:  11p15.2   HGNC cytogenetic band: 11p15.3-p15.1

PTH 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 11         GeneLoc Exon Structure

GeneLoc location for GC11M013470:     (about GC identifiers)

Start:
13,470,177 bp from pter
End:
13,474,143 bp from pter
Size:
3,967 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000011.8  NT_009237.17  
(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: PTHY_HUMAN, P01270 (See protein sequence)
Recommended Name: Parathyroid hormone precursor  
Size: 115 amino acids; 12861 Da
Subcellular location: Secreted
PDB structures from and Proteopedia :
1BWX (3D)    1ET1 (3D)    1ET2 (3D)    1FVY (3D)    1HPH (3D)    1HPY (3D)    1HTH (3D)    1ZWA (3D)    
1ZWB (3D)    1ZWD (3D)    1ZWE (3D)    1ZWF (3D)    1ZWG (3D)    3C4M (3D)    
Secondary accessions: Q4VB48

REFSEQ proteins: NP_000306.1  

ENSEMBL proteins: 
ENSP00000282091 


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

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

GO IDQualified GO termEvidencePubMed IDs
GO:0005576 extracellular region NAS14718574
GO:0005615 extracellular space IEA--
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Antibodies for PTH: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for PTH
Browse R&D Systems for Antibodies
Antibodies from Abcam (Parathyroid Hormone), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (PTH)
Novus Biologicals Antibodies for PTH

Assays for PTH: 
Invitrogen Assays for PTH
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

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

2 InterPro domains/families:
 IPR001415 Parathyrd_hrm
 IPR003625 Pthyrhorm_sub


   GeneDecks  PTH for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry P01270

ProtoNet protein and cluster: P01270

1 Blocks protein family: IPB001415 Parathyroid hormone

UniProtKB/Swiss-Prot: PTHY_HUMAN, P01270
Similarity: Belongs to the parathyroid hormone family

(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 (PTH)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (PTH)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000315

              Applied Biosystems Silencer® siRNAs for PTH

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

Clones:Invitrogen Clones for PTH
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000315
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000315
                                 untagged cDNA clone in CMV expression vector: NM_000315 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_000315

UniProtKB/Swiss-Prot: PTHY_HUMAN, P01270
Function: PTH elevates calcium level by dissolving the salts in bone and preventing their renal
excretion

Genatlas biochemistry entry for PTH:
parathyroid hormone,9.5kDa,formed from a 12.5kDa precursor

9 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pth):

craniofacialendocrine/exocrine glandgrowth/sizehematopoietic system
immune systemlethality-prenatal/perinatallimbs/digits/tailskeleton

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

GO IDQualified GO termEvidencePubMed IDs
GO:0005179 hormone activity TAS10499494
GO:0031856 parathyroid hormone receptor binding IEA--
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.)
About This Section

3 Invitrogen iPath™ Online BioAtlas - Pathways for PTH (Maps provided by GeneGo):
 Gs-a Specific GPCRs (in brain)
 Hedgehog and PTH signaling pathways participation in bone and cartilage development
 Role of VDR in regulation of genes involved in osteoporosis

   GeneDecks  PTH for the pathways selected above  
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2 Millipore Pathways for PTH
 Development Hedgehog and PTH signaling pathways in bone and cartilage development
 Transcription Role of VDR in regulation of genes involved in osteoporosis

   GeneDecks  PTH for the pathways selected above  
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for  PTH  (Your Favorite Gene powered by Ingenuity) 
 VDR/RXR Activation

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


5/123 Interacting proteins for PTH (ENSP000002820913 P012702) via UniProtKB, MINT, and/or STRING (see all 123 )
InteractantInteraction Details
GeneCardExternal ID(s)
BAT3P463792MINT-63346
FEZ1Q996892MINT-63345
PTH1RENSP000003247883STRING (score=.997)
CASRENSP000003535563STRING (score=.993)
CYP27B1ENSP000002286063STRING (score=.993)
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5/13 Gene Ontology (GO) biological process terms (links to tree view) (see all 13 ):

GO IDQualified GO termEvidencePubMed IDs
GO:0001501 skeletal system development TAS10913913
GO:0006874 cellular calcium ion homeostasis NAS--
GO:0007186 G-protein coupled receptor protein signaling pathway TAS7797535
GO:0007189 activation of adenylate cyclase activity by G-protein signaling pathway IEA--
GO:0007266 Rho protein signal transduction 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 PTH
10/26 Novoseek chemical compound relationships for PTH gene (see all 26 )
Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
calcium 70.49 308 9768650 (7), 7705374 (5), 1291861 (5), 10218771 (4) (see all 99)
deoxypyridinoline 67.32 15 18004084 (2), 14555415 (1), 19158198 (1), 18999899 (1) (see all 11)
1,25 dihydroxy vitamin d3 66.74 10 9626120 (2), 10077002 (1), 12788900 (1), 17293108 (1) (see all 9)
doxercalciferol 56.99 3 16282676 (3)
phosphorus 54.67 43 8647946 (8), 15486872 (3), 16160737 (2), 18587716 (2) (see all 16)
procollagen 52.08 12 16352693 (2), 12788900 (1), 12381951 (1), 15049968 (1) (see all 7)
forskolin 49.71 16 12209875 (4), 2175562 (1), 18450967 (1), 9572838 (1) (see all 8)
cyclic amp 38.42 16 12522076 (3), 2175562 (1), 8861839 (1), 9832466 (1) (see all 9)
ribonucleic acid 36.19 3 10323401 (1), 9661591 (1), 15554353 (1)
hydroxyproline 35.60 6 8450043 (2), 15526839 (1), 10536933 (1), 14699686 (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 (PTH)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (PTH)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000315

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

Applied Biosystems Silencer® siRNAs: 

NM_000315  

REFSEQ mRNAs for PTH gene: 

NM_000315.2   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_000315  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000315
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000315
                                 untagged cDNA clone in CMV expression vector: NM_000315 

Additional cDNA sequence: 

BC096142.1 BC096143.1 BC096144.3 BC096145.1 V00597.1 

1 DOTS entry:

DT.318355 

24/100 AceView cDNA sequences (see all 100 ):

AI457923 W37708 W37306 AI050896 AI092021 NM_000315 N90261 N89821 
AA888818 W56886 BX106232 W39202 AA037414 AI028087 AI077978 V00597 
W38966 BX103059 AA845431 W56235 AA846633 AA372113 AI167763 AI051997 

highest scoring ESTs for PTH:

AA330490 AA372113 AI028087 BX103059 BX106232 T29548 V00597 W19765 W20239 W32642 

Unigene Cluster for PTH:

Parathyroid hormone
Hs.37045  [show with all ESTs]
Unigene Representative Sequence: NM_000315


GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:
ENST00000282091  
(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

PTH expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for PTH

1 / 2 / 3

4 probe-sets matching PTH gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

708_at2, 3 U95-A 1 1.00 1.00 0.89 1.06 J00301 0.20 1.00 0.72 1

34399_at2, 3 U95-A 1 1.00 1.00 0.81 1.07 AI028087 0.80 1.00 0.91 1

206977_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000315 0.60 1.00 0.82 1

206977_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
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Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: CTGCTAATTC

SOURCE GeneReport for Unigene cluster: Hs.37045

Expression variation in blood from EXPOLDB for PTH

(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 PTH gene from 5/6 species (see all 6 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
PTH1   -- parathyroid hormone 90.43(n)
86.09(a)
403986  NM_001003302.1  NP_001003302.1 
chimpanzee
(Pan troglodytes)
PTH1   -- parathyroid hormone 100(n)
100(a)
466447  XM_001171819.1  XP_001171819.1 
cow
(Bos taurus)
PTH1   -- parathyroid hormone 88.7(n)
85.22(a)
280903  NM_173954.2  NP_776379.2 
rat
(Rattus norvegicus)
Pth1   -- parathyroid hormone 78.26(n)
71.3(a)
24694  NM_017044.1  NP_058740.1 
mouse
(Mus musculus)
Pth1, 5 7 (52.50 cM)5
parathyroid hormone1, 5 78.55(n)1
67.83(a)1
192261  NM_020623.21  NP_065648.11 
 AF0660755  AK1386775  (see all 6)
About this table        Species with no ortholog for PTH

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

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


10/43 NCBI SNPs in PTH are shown (see all 43 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 33)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 11 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs3072471,2
A,C,F,H,O13470054(-) ATCAAC/TGTTTT 1 -- ng5111Minor allele frequency- T:0.49EA NA EU WA 696
rs25935701,2
A,C,F,H,O13475168(-) CCAGGC/AAAATA 1 -- ng317Minor allele frequency- A:0.49NA EU EA WA 552
rs13801441,2
C,F,H13474470(-) TTTGGA/GTTTTA 1 -- ng314Minor allele frequency- G:0.07EU EA WA 390
rs169128731,2
F,H13470209(+) ACTTAT/CGATCA 1 -- ut31 ese37Minor allele frequency- C:0.06NA EU EA WA 560
--
rs3072481,2
A,C13469941(-) TAAAGG/TGGTCC 1 -- ng510--------
rs19005601,2
H13476035(-) cagtcT/Ggagtg 1 -- ng314Minor allele frequency- G:0.00EU EA WA 420
rs62561,2
A,C,F,H13470629(-) GGCCCC/AGAAAA 1 R/R syn1 ese314Minor allele frequency- A:0.11MN CSAM EA NA EU WA 1238
--
rs6941,2
A,C,F,H,O13470993(-) TGCTTG/ATCCTT 1 -- int114Minor allele frequency- A:0.44MN CSAM EA NA EU WA 1232
rs1777061,2
A,C,F,H,O13471081(-) TTCTCA/GTGAAA 1 -- int117Minor allele frequency- G:0.45NS MN CSAM EA NA EU WA 1068
rs1928021,2
A,C,F,H,O13472770(-) TGAGAC/TGAGGT 1 -- int117Minor allele frequency- T:0.36EA NA NS EU WA 2310
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HapMap Linkage Disequilibrium images for PTH (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: 168450   disorders: 146200  146200  

UniProtKB/Swiss-Prot: PTHY_HUMAN, P01270

  • Defects in PTH are a cause of familial isolated hypoparathyroidism (FIH) [MIM:146200]. FIH
    exist both as autosomal dominant and recessive forms of hypoparathyroidism
  • 10/52 Novoseek disease relationships for PTH gene (see all 52 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperparathyroidism secondary 81.62 20 17854393 (2), 12940896 (2), 12753275 (2), 9717845 (2) (see all 12)
    hypercalcemia 81.34 58 1849762 (4), 16077176 (4), 1993319 (3), 10660809 (3) (see all 35)
    hyperparathyroidism primary 80.78 31 16491288 (3), 1689222 (2), 8369362 (2), 10468923 (2) (see all 20)
    parathyroid adenoma 78.85 17 2199477 (2), 10704427 (2), 8626826 (1), 15775480 (1) (see all 11)
    hyperparathyroidism 73.34 16 16263810 (1), 9730564 (1), 1643722 (1), 7903311 (1) (see all 13)
    pseudohypoparathyroidism, type ib 70.63 1 10971097 (1)
    hyperphosphatemia 69.17 5 17178702 (2), 10620210 (1), 12940896 (1), 12753275 (1)
    hypoparathyroidism 68.52 14 9768650 (3), 1993319 (2), 7752497 (1), 17721071 (1) (see all 7)
    renal osteodystrophy 68.45 3 10077343 (2), 8258962 (1)
    bone diseases 62.42 8 8671970 (4), 10620210 (1), 18587716 (1), 11277262 (1) (see all 5)
    About this table

    Genatlas disease: PTH
    hypoparathyroidism,familial,isolated,dominant and recessive types

    Human Gene Mutation Database: PTH
    Genetic Association Database: PTH
    Human Genome Epidemiology Navigator: PTH (79 documents)
    Tumor Gene Database: PTH
    Breast Cancer Gene Database: PTH

    (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

    10/435 PubMed articles for PTH gene (see all 435 ):
    (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: 5741 HGNC: 9606 AceView: PTH Ensembl:ENSG00000152266 euGenes: HUgn5741
    ECgene: PTH H-InvDB: PTH
    (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

    NameDescription
    Wikipedia http://en.wikipedia.org/wiki/Parathyroid_hormone
    (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 PTH:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for PTH Antibodies for PTH
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for PTH Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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     Antibodies for PTH

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