ENAM Gene
protein-coding GIFtS: 47
GCID: GC04P071494
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enamelin(Previous names: amelogenesis imperfecta 2, hypocalcification (autosomal...) (Previous symbol: AIH2)
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Aliases for ENAM gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Enamelin1 | | AIH21 2 5 | | Amelogenesis Imperfecta 2, Hypocalcification (Autosomal Dominant)1 2 | | AI1C2 5 | | ADAI2 |
Export aliases for ENAM gene to outside databasesPrevious GC identifers: GC04P071451 GC04P071734 GC04P071895 GC04P071960 GC04P071859 GC04P067298 |
Summaries for ENAM gene(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 ENAM: Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene encodes thelargest protein in the enamel matrix of developing teeth. The protein is involved in the mineralization and structuralorganization of enamel. Defects in this gene result in amelogenesis imperfect type 1C.(provided by RefSeq, Oct 2009) UniProtKB/Swiss-Prot: ENAM_HUMAN, Q9NRM1Function: Involved in the mineralization and structural organization of enamel. Involved in the extension of enamelduring the secretory stage of dental enamel formation Gene Wiki entry for ENAM
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Genomic Views for ENAM 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000004.11 NC_018915.1 NT_022778.16
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the ENAM gene promoter: IRF-2 USF1 USF-1 Hand1 Pax-2a CUTL1 E47 Other transcription factors
Search SABiosciences Chromatin IP Primers for ENAM
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ENAM |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 4q13.3 Ensembl cytogenetic band: 4q13.3 HGNC cytogenetic band: 4q13.3ENAM Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 4 GeneLoc Exon Structure GeneLoc location for GC04P071494: view genomic region
(about GC identifiers)
Start:
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71,494,461 bp from pter |
End:
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71,552,533 bp from pter |
Size:
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58,073 bases |
Orientation:
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plus strand |
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Proteins for ENAM gene
(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: ENAM_HUMAN, Q9NRM1 (See
protein sequence)Recommended Name: Enamelin precursor Size: 1142 amino acids; 128785 Da
Subcellular location: Secreted, extracellular space, extracellular matrix
Secondary accessions: Q17RI5 Q9H3D1Explore the universe of human proteins at neXtProt for ENAM: NX_Q9NRM1
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9NRM1 ENAM Protein expression data from MOPED and PaxDb: About this image 
 REFSEQ proteins: NP_114095.2 ENSEMBL proteins: ENSP00000379383 Human Recombinant Protein Products for ENAM:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005578 | proteinaceous extracellular matrix |
NAS | -- |
ENAM for ontologies About GeneDecksing
ENAM Antibody Products: Assay Products for ENAM: |
Protein
Domains / Families for ENAM gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ENAM for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9NRM1ProtoNet protein and cluster: Q9NRM1 |
Function for ENAM gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Molecular Function: UniProtKB/Swiss-Prot Summary: ENAM_HUMAN, Q9NRM1Function: Involved in the mineralization and structural organization of enamel. Involved in the extension of enamelduring the secretory stage of dental enamel formation Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
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| GO:0030345 | structural constituent of tooth enamel |
NAS | -- |
ENAM for ontologies About GeneDecksing
Phenotypes: 2 MGI mutant phenotypes (inferred from 5 alleles ) (MGI details for Enam):
ENAM for phenotypes About GeneDecksing
Animal Models:
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ENAM (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ENAM OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: ENAM (NM_031889) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ENAM | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ENAM  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ENAM |
|
Pathways & Interactions for ENAM gene
(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
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Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ENAM
STRING Interaction
Network Preview (showing 5 interactants - click image to see 7)
 5/7 Interacting proteins for ENAM (ENSP000003793834) via UniProtKB, MINT, STRING, and/or I2D (see all 7)About this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table
ENAM for ontologies About GeneDecksing
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Drugs & Compounds for ENAM gene(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
|
ENAM for compounds About GeneDecksing
Browse Tocris compounds for ENAM 2 Novoseek chemical compound relationships for ENAM gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| hydroxyapatite |
53.5 |
2 |
17957327 (1), 14656895 (1) |
| calcium |
0 |
4 |
18508280 (3), 1362507 (1) |
Search CenterWatch for drugs/clinical trials and news about ENAM 
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Transcripts for ENAM gene(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,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
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 ENAM gene: NM_031889.2 Unigene Cluster for ENAM: Enamelin Hs.667018 [show with all ESTs]Unigene Representative Sequence: AF1253734 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000396073(uc011caw.1) ENST00000472597 ENST00000472903 ENST00000509221
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ENAM (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ENAM OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: ENAM (NM_031889) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ENAM | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ENAM  |
Additional cDNA sequence: AF125373.1 AF210247.1 BC117308.1 BC117310.1 BC171756.1 3 DOTS entries: DT.70103210 DT.40310739 DT.99979611 12 AceView cDNA sequences: BX098849 BU741192 AF125373 NM_031889 BM726916 AI675060 AI627857 AF210247 AW466983 AI078135 BG196445 AW770535 GeneLoc Exon Structure
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Expression for ENAM gene
(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
| ENAM expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: AAAACACCGT
 About this image See ENAM Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for ENAM
SOURCE GeneReport for Unigene cluster: Hs.667018
UniProtKB/Swiss-Prot: ENAM_HUMAN, Q9NRM1Tissue specificity: Expressed in tooth particularly in odontoblast, ameloblast and cementoblast SABiosciences Custom PCR Arrays for ENAM
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ENAM Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ENAM | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ENAM | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ENAM | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ENAM |
Orthologs for ENAM gene
(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
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This gene was present in the common ancestor of chordates.
Orthologs for ENAM gene from 2/8 species (see all 8) About this table
ENSEMBL Gene Tree for ENAM (if available) TreeFam Gene Tree for ENAM (if available)  |
Paralogs for ENAM gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| -- |
Genomic Variants for ENAM gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 4 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
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HapMap Linkage Disequilibrium report for ENAM (71494461 - 71552533 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for ENAM: -- Human Gene Mutation Database (HGMD): ENAM
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ENAM |
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Disorders
/ Diseases for ENAM gene
(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
|
ENAM for disorders About GeneDecksing
OMIM gene information: 606585 OMIM disorders: 104500 204650 UniProtKB/Swiss-Prot: ENAM_HUMAN, Q9NRM1
Defects in ENAM are the cause of amelogenesis imperfecta type 1B (AI1B) [MIM:104500]. AI1B is an autosomaldominant defect of enamel formation. Clinical manifestations may be variable. Some cases present with generalizedenamel hypoplasia resulting in small, smooth, yellow and spaced teeth (smooth hypoplastic AI). Others show horizontalrows of pits, grooves or a hypoplastic area in the enamel (local hypoplastic AI) Defects in ENAM are the cause of amelogenesis imperfecta type 1C (AI1C) [MIM:204650]; also known asamelogenesis imperfecta hypoplastic with or without openbite malocclusion. AI1C is an autosomal recessive defect ofdental enamel formation. Teeth show hypoplastic and unmineralized enamel, and a yellow-brown discoloration. Enameldefects can be associated with facial and oral features including vertical dysgnathia and anterior openbitemalocclusion 16 diseases for ENAM: About MalaCardsamelogenesis imperfecta amelogenesis imperfecta, type ic amelogenesis imperfecta, type ib craniofacial anomalies cleft lip/palate dentinogenesis imperfecta cleft lip tooth agenesis dentin dysplasia polycystic kidney disease kidney disease craniopharyngioma autoimmune hepatitis hepatitis c amyloidosis hepatitis 4 diseases from the University of Copenhagen DISEASES database for ENAM:Amelogenesis imperfecta Autoimmune hepatitis Dentinogenesis imperfecta Dentin dysplasia 8 Novoseek disease relationships for ENAM gene About this table
Human Genome Epidemiology (HuGE) Navigator: ENAM (1 document) Export disorders for ENAM gene to outside databases
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Publications for ENAM gene (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 ENAM gene, integrated from 9 sources (see all 87): (articles sorted by number of sources associating them with ENAM) | |  | Utopia: connect your pdf to the dynamic world of online information |
- A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2). (PubMed id 11978766)1, 2, 3, 9 Mardh C.K....Forsman-Semb K. (2002)
- Enamelin maps to human chromosome 4q21 within the autosomal dominant amelogenesis imperfecta locus. (PubMed id 11037750)1, 2, 9 Dong J.... MacDougall M. (2000)
- Dietary change and adaptive evolution of enamelin in humans and among primates. (PubMed id 18245370)1, 2, 9 Kelley J.L. and Swanson W.J. (2008)
- Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects. (PubMed id 14684688)1, 2, 9 Hart T.C.... Firatli E. (2003)
- Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta. (PubMed id 11487571)1, 2, 9 Rajpar M.H.... Dixon M.J. (2001)
- Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185-13186insAG and 8344delG. (PubMed id 17125728)1, 9 Pavlic A....Battelino T. (2007)
- Enamelin and autosomal-dominant amelogenesis imperfecta. (PubMed id 14656895)1, 9 Hu J.C. and Yamakoshi Y. (2003)
- Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature. (PubMed id 12828988)1, 9 Hart P.S.... Wright J.T. (2003)
- Cloning human enamelin cDNA, chromosomal localization, and analysis of expression during tooth development. (PubMed id 10831092)1, 9 Hu C.C....Simmer J.P. (2000)
- Candidate gene strategy reveals ENAM mutations. (PubMed id 19329462)1, 9 Kang H.Y....Kim J.W. (2009)
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External Searches for ENAM gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
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Genome Databases showing ENAM gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
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Other Databases showing ENAM gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ENAM gene(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
|
| Name | Description |
| PharmGKB entry for ENAM | Pharmacogenomics, SNPs, Pathways |
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About This Section
| Patent Information for ENAM gene: Search GeneIP for patents involving ENAM
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for ENAM gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory) About This Section
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| | | | Browse OriGene Antibodies | | OriGene shRNA RFP for ENAM | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ENAM | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ENAM | | OriGene Protein Over-expression Lysate for ENAM | | Browse OriGene Fluorogenic Cell Assay Kits | | OriGene siRNA for ENAM | | OriGene 3'-UTR Clone for ENAM | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ENAM | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ENAM | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | OriGene Custom Antibody Services for ENAM | | OriGene Custom Protein Services for ENAM | | OriGene Custom Immunoassay Development | | |
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ENAM | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ENAM | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ENAM | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ENAM | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ENAM | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ENAM |
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| | | Search Tocris compounds for ENAM |
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 | | ENAM Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ENAM |
|  |  |  |  | | | ThermoFisher Antibody for ENAM |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ENAM |
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