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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AMELX Gene

protein-coding   GIFtS: 49
GCID: GC0XP011221

amelogenin, X-linked

(Previous names: amelogenin (X chromosome, amelogenesis imperfecta 1) )
(Previous symbols: AMG, AIH1)
 Explore 14 diseases affiliated with
AMELX via our new
 Human Malady Compendium 
Biological research products
for AMELX
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Amelogenin, X-Linked1 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     

External Ids:    HGNC: 4611   Entrez Gene: 2652   Ensembl: ENSG000001253637   OMIM: 3003915   UniProtKB: Q992173   

Export aliases for AMELX gene to outside databases

Previous GC identifers: GC0XP010290 GC0XP010077 GC0XP010607 GC0XP010672 GC0XP011071 GC0XP009091


(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 stage
of tooth enamel development. Thought to play a major role in the structural organization and mineralization of
developing enamel

Gene Wiki entry for AMELX


(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

SwitchGear Promoter luciferase reporter plasmidAMELX promoter sequence
   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)
AMELX gene location

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

(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: 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 the
predominant protein in developing dental enamel
Secondary accessions: Q96NW6 Q9UCA7
Alternative 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 

Estimated protein expression log10 (pmol).

REFSEQ proteins (3 alternative transcripts): 
NP_001133.1  NP_872621.1  NP_872622.1  

ENSEMBL proteins: 
 ENSP00000370090   ENSP00000370088   ENSP00000335312  

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Uscn Proteins for AMELX

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005578proteinaceous extracellular matrix IDA2509010
GO:0044420extracellular matrix part ----


AMELX for ontologies           About GeneDecksing



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Uscn ELISAs and CLIAs for AMELX


(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:
 IPR004116 Amelogenin

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


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, 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 stage
of 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

miRNA
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QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AMELX
3 QIAGEN miScript miRNA Assays for microRNAs that regulate AMELX:
hsa-miR-4288 hsa-miR-632 hsa-miR-592
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Inhib. RNA
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AMELX 

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In Situ Assay
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Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding IPI18434575
GO:0008083growth factor activity ISS1734713
GO:0030345structural constituent of tooth enamel IMP1483698
GO:0042802identical protein binding ISS1734713
GO:0043498cell surface binding ISS1734713


AMELX for ontologies           About GeneDecksing


Animal Models:
     Mouse knock-out Amelxtm1Kul for AMELX
     3 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Amelx):
 craniofacial  skeleton  tumorigenesis 

AMELX for phenotypes           About GeneDecksing


(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



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 (ENSP000003700884) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
TMEM179BENSP000003336974STRING: ENSP00000333697
AHSGENSP000003938874STRING: ENSP00000393887
About this table

Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001649osteoblast differentiation ISS1734713
GO:0001837epithelial to mesenchymal transition ISS1734713
GO:0002062chondrocyte differentiation ISS1734713
GO:0007155cell adhesion ISS1734713
GO:0007165signal transduction TAS16674683


AMELX for ontologies           About GeneDecksing



(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 Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for AMELX
Search CenterWatch for drugs/clinical trials and news about AMELX 

(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

miRNA
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3 QIAGEN miScript miRNA Assays for microRNAs that regulate AMELX:
hsa-miR-4288 hsa-miR-632 hsa-miR-592
SwitchGear 3'UTR luciferase reporter plasmidAMELX 3' UTR sequence
Inhib. RNA
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Clone
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GenScript: all cDNA clones in your preferred vector (see all 3): AMELX (NM_182680)
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Primer
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OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AMELX
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  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AMELX
  QIAGEN QuantiFast Probe-based Assays in 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


(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 imageBioGPS
CGAP TAG: --

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene Expression)

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
2 LifeMap In Vivo Development Anatomical Compartments/Cells 
Tissue Anatomical Compartment CellCategory (developmental path)
CartilageLumbar Intervertebral DiscIntervertebral Disc Nucleus Pulposus CellsCartilage
Primitive StreakNotochordPrimitive Streak
Expression: Positive    Negative     Selective marker
Experimental details: Curated     Microarrays     In-situ hybridization

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
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QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AMELX
In Situ
Assay Products:
 

 
Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for AMELX

(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

This gene was present in the common ancestor of chordates.

Orthologs for AMELX gene from 2/8 species (see all 8)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Amelx1 , 5 amelogenin X chromosome1, 5 90.35(n)1
86.84(a)1
  X (78.95 cM)5
117041  NM_001081978.21  NP_001075447.11 
 1691761145 
lizard
(Anolis carolinensis)
Reptilia --
--
48(a)
1 → many
GL343702.1(36424-41303)


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for AMELX gene
AMELY2  
1 SIMAP similar gene for AMELX using alignment to 2 protein entries:     AMELX_HUMAN (see all proteins):
AMELY

AMELX for paralogs           About GeneDecksing



(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

10/110 NCBI SNPs in AMELX are shown (see all 110    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr X posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1048947371,2
Cpathogenic11312910(+) AGAAAC/TGGGGA 8 T M int1 mis10--------
rs1048947381,2
Cpathogenic11312919(+) GACCTC/GGATTT 8 S W int1 mis10--------
rs1048947331,2
Cpathogenic11316363(+) GCTTAC/TCCCTT 8 T I int1 mis10--------
rs1048947361,2
Cpathogenic11316689(+) ACGAGA/CCCATG 8 T P int1 mis10--------
rs1499236811,2
--11309590(+) AACTAC/TAAGGC 5 -- int1 us2k10--------
rs1816175171,2
--11309700(+) TTATAC/TAAAAT 5 -- int1 us2k10--------
rs1859081951,2
--11309829(+) GGAATC/TCTTCT 5 -- int1 us2k10--------
rs1907653721,2
--11310085(+) AAACAA/TTTACT 5 -- int1 us2k10--------
rs1833654141,2
--11310369(+) TATTGA/GTCTAA 5 -- int1 us2k10--------
rs1878781601,2
--11310391(+) GACTCA/GTCAGT 5 -- int1 us2k10--------

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
DNA2.0 Custom Variant and Variant Library Synthesis for AMELX

(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

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    amelogenesis imperfecta 96.8 21 12952177 (2), 7782077 (2), 8081371 (1), 1916828 (1) (see all 17)

    Human Genome Epidemiology (HuGE) Navigator: AMELX (6 documents)

    Export disorders for AMELX 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)
    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

    1. 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)
    2. A nomenclature for X-linked amelogenesis imperfecta. (PubMed id 11922868)1, 2, 9 Hart P.S.... Wright J.T. (2002)
    3. 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)
    4. 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)
    5. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    6. 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)
    7. Production of a monoclonal antibody against human amelogenin. (PubMed id 8118759)1, 2 Catalano-Sherman J.... Deutsch D. (1994)
    8. 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)
    9. A human X-Y homologous region encodes 'amelogenin'. (PubMed id 2004775)1, 2 Nakahori Y.... Nakagome Y. (1991)
    10. Human amelogenins: sequences of 'TRAP' molecules. (PubMed id 2509010)1, 2 Fincham A.G.... Snead M.L. (1989)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 265 HGNC: 461 AceView: AMELX Ensembl:ENSG00000125363 euGenes: HUgn265
    ECgene: AMELX H-InvDB: AMELX

    (According to HUGE)
    About This Section
      --

    (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
    NameDescription
    PharmGKB entry for AMELX Pharmacogenomics, SNPs, Pathways

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

    GeneCards and IP:
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     Browse OriGene Antibodies   OriGene shRNA RFP for AMELX  
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     AMELX Proteins, Antibodies, CLIAs, and ELISAs
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     Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for AMELX
     SwitchGear 3'UTR luciferase reporter plasmids for AMELX
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     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AMELX
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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