AMELX Gene
protein-coding GIFtS : 49
GCID: GC0X P011221
amelogenin, X-linked (Previous names: amelogenin (X chromosome, amelogenesis imperfecta 1) ) (Previous symbols: AMG, AIH1 )
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Aliasesfor AMELX gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Amelogenin, X-Linked 1 2 ALGN2 AMG1 2 3 5 AMGL2 AIH11 2 5 Amelogenesis Imperfecta 12 AMGX2 3 5 Amelogenin (Amelogenesis Imperfecta 1, X-Linked)2 Amelogenin (X Chromosome, Amelogenesis Imperfecta 1)1 2 Amelogenin, X Isoform2 AI1E2
Export aliases for AMELX gene to outside databases Previous GC identifers: GC0XP010290 GC0XP010077 GC0XP010607 GC0XP010672 GC0XP011071 GC0XP009091
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Summariesfor AMELX 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 AMELX : This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in this gene cause X-linked amelogenesis imperfecta. Alternative splicing results in multiple transcript variants encoding different isoforms. (provided by RefSeq, Jul 2008) UniProtKB/Swiss-Prot: AMELX_HUMAN, Q99217 Function : Plays a role in biomineralization. Seems to regulate the formation of crystallites during the secretory stageof tooth enamel development. Thought to play a major role in the structural organization and mineralization of developing enamel Gene Wiki entry for AMELX
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Genomic Viewsfor AMELX 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_000023.10 NC_018934.1 NT_167197.1 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the AMELX gene promoter: CREB SRY deltaCREB Other transcription factors Search SABiosciences Chromatin IP Primers for AMELX Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AMELX
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: Xp22.31-p22.1 Ensembl cytogenetic band: Xp22.2 HGNC cytogenetic band: Xp22.31-p22.1 AMELX Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome X GeneLoc Exon Structure
GeneLoc location for GC0XP011221: view genomic region
(about GC identifiers )
Start:
11,311,533 bp from pter
End:
11,318,881 bp from pter
Size:
7,349 bases
Orientation:
plus strand
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Proteinsfor AMELX gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
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: AMELX_HUMAN, Q99217 (See
protein sequence )Recommended Name: Amelogenin, X isoform precursor Size : 191 amino acids; 21603 Da
Subcellular location : Secreted, extracellular space, extracellular matrix
Developmental stage : Transiently but abundantly expressed by ameloblasts during tooth development. Amelogenin is thepredominant protein in developing dental enamel
Secondary accessions : Q96NW6 Q9UCA7Alternative splicing : 3 isoforms : Q99217-1 Q99217-2 Q99217-3 Explore the universe of human proteins at neXtProt for AMELX: NX_Q99217 AMELX Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins (3 alternative transcripts):
NP_001133.1 NP_872621.1 NP_872622.1 ENSEMBL proteins: ENSP00000370090 ENSP00000370088 ENSP00000335312 Human Recombinant Protein Products: Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0005578 proteinaceous extracellular matrix
IDA 2509010 GO:0044420 extracellular matrix part
-- --
AMELX for ontologies About GeneDecksing AMELX Antibody Products: Assay Products for AMELX:
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Protein
Domains / Familiesfor AMELX gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
AMELX for domains About GeneDecksing 1 InterPro domain/family :
Graphical View of Domain Structure for InterPro Entry Q99217 ProtoNet protein and cluster: Q99217
1 Blocks protein family : IPB004116 Amelogenin UniProtKB/Swiss-Prot: AMELX_HUMAN, Q99217 Similarity : Belongs to the amelogenin family
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Functionfor AMELX gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: AMELX_HUMAN, Q99217 Function : Plays a role in biomineralization. Seems to regulate the formation of crystallites during the secretory stageof tooth enamel development. Thought to play a major role in the structural organization and mineralization of developing enamel
Genatlas biochemistry entry for AMELX : amelogenin,extracellular matrix protein of the dental enamel,X linked 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 AMELX (see all 6 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for AMELX (see all 3 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 3 ): AMELX (NM_182680 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for AMELX Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat AMELX
Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6 ): About this table
AMELX for ontologies About GeneDecksing Animal Models: Mouse knock-out Amelx tm1Kul for AMELX 3 MGI mutant phenotypes (inferred from 5 alleles ) (MGI details for Amelx) :
AMELX for phenotypes About GeneDecksing
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Pathways & Interactionsfor AMELX 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 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for AMELX STRING Interaction
Network Preview (showing 2 interactants - click image to see more details)2 Interacting proteins for AMELX (ENSP00000370088 4 ) via UniProtKB, MINT, STRING , and/or I2D About this table Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13 ): About this table
AMELX for ontologies About GeneDecksing
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Drugs & Compoundsfor AMELX 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 Browse Tocris compounds for AMELX Search CenterWatch for drugs/clinical trials and news about AMELX
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Transcriptsfor AMELX 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 ,
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 AMELX gene (3 alternative transcripts): NM_001142.2 NM_182680.1 NM_182681.1 Unigene Cluster for AMELX:
Amelogenin, X-linked Hs.654436 Unigene Representative Sequence: NM_182680 3 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000380714 (uc004cut.3 uc004cuu.3 ) ENST00000380712 (uc004cus.3 )ENST00000348912 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for AMELX (see all 6 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for AMELX (see all 3 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 3 ): AMELX (NM_182680 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for AMELX Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat AMELX
Additional cDNA sequence: AF436849.1 BC069118.1 BC074951.2 M86932.1 S67147.1
2 DOTS entries : DT.206426 DT.121305004
9 AceView cDNA sequences :
M86932 NM_001142 NM_182681 NM_182680 AF436849 BC074951 BC069118 S67147 BG193202 GeneLoc Exon Structure
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Expression for AMELX 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 AMELX expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: --
About this image AMELX expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See AMELX Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for AMELX SOURCE GeneReport for Unigene cluster: Hs.654436 SABiosciences Custom PCR Arrays for AMELX Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for AMELXBrowse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat AMELX QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat AMELX QIAGEN QuantiFast Probe-based Assays in human , mouse , rat AMELX
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Orthologsfor AMELX gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of chordates.
Orthologs for AMELX gene from 2/8 species (see all 8 ) About this table
ENSEMBL Gene Tree for AMELX (if available)TreeFam Gene Tree for AMELX (if available)
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Paralogsfor AMELX gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for AMELX gene AMELY 2 1 SIMAP similar gene for AMELX using alignment to 2 protein entries: AMELX_HUMAN (see all proteins ):AMELY
AMELX for paralogs About GeneDecksing
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Genomic Variantsfor AMELX gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
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 X pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for AMELX (11311533 - 11318881 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for AMELX: -- Human Gene Mutation Database (HGMD) : AMELX Locus Specific Mutation Databases (LSDB): AMELX SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing AMELX
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Disorders
/ Diseasesfor AMELX 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
AMELX for disorders About GeneDecksing OMIM gene information: 300391 OMIM disorders : 301200 UniProtKB/Swiss-Prot: AMELX_HUMAN, Q99217
Defects in AMELX are the cause of amelogenesis imperfecta type 1E (AI1E) [MIM:301200]. A X-linked defect of dental enamel formation. Teeth have only a thin layer of enamel with normal hardness. The thinness of the enamel makes the teeth appear small 14 diseases for AMELX : About MalaCards amelogenesis imperfecta amelogenesis imperfecta, hypoplastic/hypomaturation type nance-horan syndrome dental pulp necrosis root resorption dental fluorosis dentinogenesis imperfecta freemartinism autoimmune hepatitis periodontal disease purpura periodontitis hepatitis amelogenesis imperfecta, type 1e 6 diseases from the University of Copenhagen DISEASES database for AMELX :Amelogenesis imperfecta Dental fluorosis Dental pulp necrosis Root resorption Turner syndrome Freemartinism 1 Novoseek disease relationship for AMELX gene About this table
Human Genome Epidemiology (HuGE) Navigator: AMELX (6 documents) Export disorders for AMELX gene to outside databases
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Publicationsfor AMELX gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for AMELX gene, integrated from 9 sources (see all 81 ): (articles sorted by number of sources associating them with AMELX) Utopia : connect your pdf to the dynamic world of online information
The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes. (PubMed id 1734713) 1 , 2 , 3, 9 Salido E.C.... Shapiro L.J. (1992) A nomenclature for X-linked amelogenesis imperfecta. (PubMed id 11922868) 1 , 2 , 9 Hart P.S.... Wright J.T. (2002) Amelogenin signal peptide mutation: correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta. (PubMed id 7782077) 1 , 2 , 9 Lagerstroem-Fermer M.... Landergren U. (1995) Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta. (PubMed id 15111628) 1 , 2 , 9 Kim J.-W.... Hu J.C.-C. (2004) The DNA sequence of the human X chromosome. (PubMed id 15772651) 1 , 2 Ross M.T.... Bentley D.R. (2005) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 1 , 2 Gerhard D.S....Malek J. (2004) Production of a monoclonal antibody against human amelogenin. (PubMed id 8118759) 1 , 2 Catalano-Sherman J.... Deutsch D. (1994) Amino acid sequence of a major human amelogenin protein employing Edman degradation and cDNA sequencing. (PubMed id 8254123) 1 , 2 Catalano-Sherman J.... Deutsch D. (1993) A human X-Y homologous region encodes 'amelogenin'. (PubMed id 2004775) 1 , 2 Nakahori Y.... Nakagome Y. (1991) Human amelogenins: sequences of 'TRAP' molecules. (PubMed id 2509010) 1 , 2 Fincham A.G.... Snead M.L. (1989)
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External Searches for AMELX gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing AMELX 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 AMELX gene
(According to HUGE )
About This Section --
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Specialized Databases showing AMELX 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 AMELX Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for AMELX gene: Search GeneIP for patents involving AMELX GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor AMELX 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 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , 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 About This Section
Browse OriGene Antibodies OriGene shRNA RFP for AMELX OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for AMELX OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for AMELX OriGene Protein Over-expression Lysate for AMELX Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for AMELX Browse 3'-UTR reporter clones for miRNA target validation OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for AMELX OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for AMELX 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 AMELX OriGene Custom Protein Services for AMELX OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat AMELX QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing AMELX QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AMELX QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat AMELX QIAGEN QuantiFast Probe-based Assays in human , mouse , rat AMELX QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat AMELX
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AMELX Proteins, Antibodies, CLIAs, and ELISAs
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Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat AMELX
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Aliases for AMELX
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Disorders / Diseases for AMELX
Domains / Families for AMELX
Drugs / Compounds for AMELX
Expression for AMELX
Function for AMELX
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Pathways / Interactions for AMELX
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