KERA Gene
protein-coding GIFtS : 57
GCID: GC12 M091377
keratocan (Previous symbol: CNA2 )
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Aliasesfor KERA 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 Keratocan 1 SLRR2B1 2 3 CNA21 2 5 Keratan Sulfate Proteoglycan Keratocan2 3 KTN2 3
Export aliases for KERA gene to outside databases Previous GC identifers: GC12M090766 GC12M091891 GC12M089946 GC12M088512
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Summariesfor KERA 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 KERA : The protein encoded by this gene is a keratan sulfate proteoglycan that is involved in corneal transparency. Defects in this gene are a cause of autosomal recessive cornea plana 2 (CNA2).(provided by RefSeq, May 2010) UniProtKB/Swiss-Prot: KERA_HUMAN, O60938 Function : May be important in developing and maintaining corneal transparency and for the structure of the stromalmatrix Gene Wiki entry for KERA (Keratocan)
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Genomic Viewsfor KERA 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_000012.11 NC_018923.1 NT_029419.12 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the KERA gene promoter: Nkx3-1 Nkx3-1 v4 FOXF2 Nkx3-1 v1 CUTL1 GATA-1 Nkx3-1 v2 POU2F1 POU2F1a Nkx3-1 v3 Other transcription factors Search SABiosciences Chromatin IP Primers for KERA Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KERA
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 12q22 Ensembl cytogenetic band: 12q21.33 HGNC cytogenetic band: 12q21.3-q22 KERA Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 12 GeneLoc Exon Structure
GeneLoc location for GC12M091377: view genomic region
(about GC identifiers )
Start:
91,444,268 bp from pter
End:
91,452,131 bp from pter
Size:
7,864 bases
Orientation:
minus strand
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Proteinsfor KERA 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: KERA_HUMAN, O60938 (See
protein sequence )Recommended Name: Keratocan precursor Size : 352 amino acids; 40509 Da
Subcellular location : Secreted, extracellular space, extracellular matrix (By similarity)Explore the universe of human proteins at neXtProt for KERA: NX_O60938 Post-translational modifications:
Binds keratan sulfate chains (By similarity)1
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_O60938 KERA Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_008966.1 ENSEMBL proteins: ENSP00000266719 Reactome Protein details: O60938 Human Recombinant Protein Products: Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view) : About this table
KERA for ontologies About GeneDecksing KERA Antibody Products: Assay Products for KERA:
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Protein
Domains / Familiesfor KERA gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
KERA for domains About GeneDecksing 2 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry O60938 ProtoNet protein and cluster: O60938
1 Blocks protein family : IPB000372 Cysteine-rich flanking region UniProtKB/Swiss-Prot: KERA_HUMAN, O60938 Similarity : Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class II subfamilySimilarity : Contains 10 LRR (leucine-rich) repeatsSimilarity : Contains 1 LRRNT domain
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Functionfor KERA 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: KERA_HUMAN, O60938 Function : May be important in developing and maintaining corneal transparency and for the structure of the stromalmatrix
Genatlas biochemistry entry for KERA : keratocan,keratan sulfate proteoglycan,on of the three major constituents of corneal stroma,expressed during eye development and in adult corneal keratocytes,small leucine-rich proteoglycan family 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 KERA (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for KERAOriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: KERA (NM_007035 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KERA Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat KERA
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KERA
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0003674 molecular_function
ND --
KERA for ontologies About GeneDecksing 2 GenomeRNAi human phenotypes for KERA :Animal Models: Mouse knock-out Kera tm1Cyl for KERA 3 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Kera) :
KERA for phenotypes About GeneDecksing
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Pathways & Interactionsfor KERA 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 Unified GeneCards pathways   About this table See pathways by source Super-pathway contained gene-specific pathways 1 MPS IIIC - Sanfilippo syndrome C 2 Extracellular KSPG translocates to the lysosome for degradation 3 Keratan sulfate biosynthesis 4 Disease 5 Metabolism
Pathway sources See GeneCards unified pathways Show all pathways 5/22
Reactome Pathways for KERA (see all 22 )
KERA for pathways About GeneDecksing Interactions: Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KERA STRING Interaction
Network Preview (showing 5 interactants - click image to see 19)5/21 Interacting proteins for KERA (O60938 2 , 3 ENSP00000266719 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 21 )About this table Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9 ): About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0005975 carbohydrate metabolic process
TAS -- GO:0007601 visual perception
IEA -- GO:0018146 keratan sulfate biosynthetic process
TAS -- GO:0030203 glycosaminoglycan metabolic process
TAS -- GO:0042339 keratan sulfate metabolic process
TAS --
KERA for ontologies About GeneDecksing
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Drugs & Compoundsfor KERA 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 KERA 1 HMDB Compound for KERA About this table Search CenterWatch for drugs/clinical trials and news about KERA
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Transcriptsfor KERA 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 KERA gene: NM_007035.3 Unigene Cluster for KERA:
Keratocan Hs.125750 [show with all ESTs ] Unigene Representative Sequence: NM_007035 1 Ensembl transcript including schematic representation, and UCSC links where relevant : ENST00000266719 (uc001tbl.3 ) Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for KERA (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for KERAOriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: KERA (NM_007035 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KERA Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat KERA
Additional cDNA sequence: AF063301.1 AF205403.1 AK314990.1 BC032667.2
1 DOTS entry : DT.208708
19 AceView cDNA sequences :
AA992157 AA884034 AA456434 AI340071 BM679097 AI278039 BM722156 BE041592 BC032667 AF063301 BG115424 AF205403 AI287530 BM722433 BM720651 BM468960 NM_007035 BM678956 BX100837 GeneLoc Exon Structure
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Expression for KERA 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 KERA expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: TTTTAATAAA
About this image KERA expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See KERA Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for KERA SOURCE GeneReport for Unigene cluster: Hs.125750 UniProtKB/Swiss-Prot: KERA_HUMAN, O60938 Tissue specificity : Cornea. Increased expression in the stroma of keratoconus corneas. Also detected in trachea, and inlow levels, in intestine, skeletal muscle, ovary, lung and putamen SABiosciences Custom PCR Arrays for KERA Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for KERABrowse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat KERA QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat KERA QIAGEN QuantiFast Probe-based Assays in human , mouse , rat KERA In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KERA
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Orthologsfor KERA 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 KERA gene from 3/12 species (see all 12 ) About this table
ENSEMBL Gene Tree for KERA (if available)TreeFam Gene Tree for KERA (if available)
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Paralogsfor KERA gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for KERA gene OGN 2 OPTC 2 PODN 2 PODNL1 2 FMOD 2 PRELP 2 ASPN 2 OMD 2 BGN 2 DCN 2 EPYC 2 ECM2 2 LUM 2 6 SIMAP similar genes for KERA using alignment to 1 protein entry: KERA_HUMAN :MST161 PRELP FMOD LUM OMD PODN
KERA for paralogs About GeneDecksing
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Genomic Variantsfor KERA 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 12 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for KERA (91444268 - 91452131 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for KERA: -- Human Gene Mutation Database (HGMD) : KERA SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing KERA
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Disorders
/ Diseasesfor KERA gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
KERA for disorders About GeneDecksing OMIM gene information: 603288 OMIM disorders : 217300 UniProtKB/Swiss-Prot: KERA_HUMAN, O60938
Defects in KERA are the cause of the autosomal recessive cornea plana 2 (CNA2) [MIM:217300]. In CNA2, the forward convex curvature is flattened, leading to a decrease in refraction, reduced visual activity, extreme hyperopia (usually plus 10 d or more), hazy corneal limbus, opacities in the corneal parenchyma, and marked arcus senilis (often detected at an early age). CNA2 is a rare disorder with a worldwide distribution, but a high prevalence in the Finnish population 14 diseases for KERA : About MalaCards cornea plana congenita cornea plana congenita, recessive arcus senilis exposure keratitis bullous keratopathy cycloplegia cloacogenic carcinoma corneal dystrophy keratitis hyperopia keratopathy keratoconus glaucoma carcinoma 3 diseases from the University of Copenhagen DISEASES database for KERA :Exposure keratitis Keratoconus Cloacogenic carcinoma Human Genome Epidemiology (HuGE) Navigator: KERA (3 documents) Export disorders for KERA gene to outside databases
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Publicationsfor KERA 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 KERA gene, integrated from 9 sources (see all 26 ): (articles sorted by number of sources associating them with KERA) Utopia : connect your pdf to the dynamic world of online information
Mutations in KERA, encoding keratocan, cause cornea plana. (PubMed id 10802664) 1 , 2 , 3, 9 Pellegata N.S....de la Chapelle A. (2000) Structure and sequence of the gene encoding human keratocan. (PubMed id 10565548) 1 , 2 , 3, 9 Tasheva E.S....Conrad G.W. (1999) Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952) 1 , 2 Liu T.... Smith R.D. (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) Keratocan expression is increased in the stroma of keratoconus corneas. (PubMed id 11683372) 1 , 2 Wentz-Hunter K.... Yue B.Y.J.T. (2001) A novel keratocan mutation causing autosomal recessive cornea plana. (PubMed id 11726611) 1 , 2 Lehmann O.J....Bhattacharya S.S. (2001) Clinical and molecular characterization of a family with autosomal recessive cornea plana. (PubMed id 16157807) 1 , 9 Ebenezer N.D....Allen R.C. (2005) Recessive cornea plana in the Kingdom of Saudi Arabia. (PubMed id 17011957) 1 , 9 Khan A.O....Meyer B. (2006) Assignment of keratocan gene (KERA) to human chromosome band 12q22 by in situ hybridization. (PubMed id 10828599) 1 , 9 Tasheva E.S....Conrad G.W. (2000) Identification and characterization of conserved cis-regulatory elements in the human keratocan gene promoter. (PubMed id 10899581) 1 , 9 Tasheva E.S....Conrad G.W. (2000)
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External Searches for KERA gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing KERA 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 KERA gene
(According to HUGE )
About This Section --
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Specialized Databases showing KERA 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 KERA Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for KERA gene: Search GeneIP for patents involving KERA GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor KERA 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 KERA OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for KERA OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for KERA OriGene Protein Over-expression Lysate for KERA Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for KERA Browse 3'-UTR reporter clones for miRNA target validation OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for KERA OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for KERA 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 KERA OriGene Custom Protein Services for KERA OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat KERA QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing KERA QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KERA QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat KERA QIAGEN QuantiFast Probe-based Assays in human , mouse , rat KERA QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat KERA
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KERA Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KERA
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Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat KERA
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