KRT86 Gene
protein-coding GIFtS: 47
GCID: GC12P052668
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keratin 86(Previous names: keratin, hair, basic, 6 (monilethrix) ) (Previous symbol: KRTHB6)
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Aliases for KRT86 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Keratin 861 2 | | Hb61 | | KRTHB61 2 3 5 | | Hb12 | | MNX1 2 | | KRTHB12 | | Keratin, Hair, Basic, 6 (Monilethrix)1 2 | | HHb61 | | Hair Keratin K2.112 3 | | Hard Keratin, Type II, 62 | | Type II Hair Keratin Hb62 3 | | Keratin Protein HB62 | | Type-II Keratin Kb262 3 | | Keratin, Type II Cuticular Hb62 | | K862 3 | | Keratin-863 | | HB62 5 | | Keratin-863 |
Export aliases for KRT86 gene to outside databasesPrevious GC identifers: GC12P050982 GC12P052695 GC12P049730 GC12P052643 |
Summaries for KRT86 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 KRT86: The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basicprotein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered ina region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. Onesubfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includesKRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB1and KRTHB3, is found primarily in the hair cortex. Mutations in this gene and KRTHB1 have been observed in patientswith a rare dominant hair disease, monilethrix. (provided by RefSeq, Jul 2008) Gene Wiki entry for KRT86
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Genomic Views for KRT86 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 KRT86 gene promoter: AhR c-Fos HEN1 AP-1 HSF1short HSF1 (long) c-Jun Arnt Other transcription factors
Search SABiosciences Chromatin IP Primers for KRT86
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRT86 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 12q13 Ensembl cytogenetic band: 12q13.13 HGNC cytogenetic band: 12q13KRT86 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 GC12P052668: view genomic region
(about GC identifiers)
Start:
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52,668,459 bp from pter |
End:
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52,702,947 bp from pter |
Size:
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34,489 bases |
Orientation:
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plus strand |
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Proteins for KRT86 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: KRT86_HUMAN, O43790 (See
protein sequence)Recommended Name: Keratin, type II cuticular Hb6 Size: 486 amino acids; 53501 Da
Subunit: Heterotetramer of two type I and two type II keratins
Miscellaneous: There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic)
Secondary accessions: P78387Explore the universe of human proteins at neXtProt for KRT86: NX_O43790
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O43790 KRT86 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_002275.1 ENSEMBL proteins: ENSP00000452237 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:0005882 | intermediate filament |
NAS | -- | | GO:0045095 | keratin filament |
IEA | -- |
KRT86 for ontologies About GeneDecksing
KRT86 Antibody Products: Assay Products for KRT86: |
Protein
Domains / Families for KRT86 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
KRT86 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry O43790ProtoNet protein and cluster: O43790 2 Blocks protein families: IPB001664 Intermediate filament protein IPB003054 Type II keratin signature
UniProtKB/Swiss-Prot: KRT86_HUMAN, O43790Similarity: Belongs to the intermediate filament family |
Function for KRT86 gene
(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
|
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 KRT86 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KRT86 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT86 |
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:0005198 | structural molecule activity |
NAS | -- |
KRT86 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for KRT86:
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Pathways & Interactions for KRT86 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
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KRT86
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0007010 | cytoskeleton organization |
NAS | -- |
KRT86 for ontologies About GeneDecksing
|
Drugs & Compounds for KRT86 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
|
KRT86 for compounds About GeneDecksing
Browse Tocris compounds for KRT86 2 Novoseek chemical compound relationships for KRT86 gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| lysine |
30.9 |
1 |
9804356 (1) |
| glutamate |
12.4 |
1 |
9804356 (1) |
Search CenterWatch for drugs/clinical trials and news about KRT86 
|
Transcripts for KRT86 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 KRT86 gene: NM_002284.3 Unigene Cluster for KRT86: Keratin 86 Hs.278658 [show with all ESTs]Unigene Representative Sequence: NM_0022841 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000553310
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KRT86 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KRT86 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: KRT86 (NM_002284) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KRT86 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRT86  |
Additional cDNA sequence: AK292237.1 AK297794.1 BC069585.1 X99142.1 XR_111293.1 4 DOTS entries: DT.95069074 DT.405699 DT.40271285 DT.97770268 24/762 AceView cDNA sequences (see all 762): AA308705 BE740515 AW627469 BM142248 BQ350308 AU104593 AI368926 CB243797 AU155447 BI490003 CN482634 AI927832 CD620752 BQ691665 CB853835 BM142377 BE744321 AW074105 AU148083 BM834695 AW630494 CB851234 AA372031 CD620748 GeneLoc Exon Structure
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Expression for KRT86 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
| KRT86 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: --
About this image See KRT86 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for KRT86
SOURCE GeneReport for Unigene cluster: Hs.278658 UniProtKB/Swiss-Prot: KRT86_HUMAN, O43790Tissue specificity: Synthesis begins slightly higher in the hair shaft than HB1 and HB3 and continues much farther up,ending in the keratogeneous zone SABiosciences Custom PCR Arrays for KRT86
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KRT86 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat KRT86 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KRT86 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KRT86 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT86 |
Orthologs for KRT86 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
|
This gene was present in the common ancestor of animals.
Orthologs for KRT86 gene from 4/14 species (see all 14) About this table
ENSEMBL Gene Tree for KRT86 (if available) TreeFam Gene Tree for KRT86 (if available)  |
Paralogs for KRT86 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for KRT86 gene
- KRT742 KRT772 KRT6B2 KRT832 KRT762 KRT32 KRT842 KRT82
- KRT812 KRT712 KRT8P112 KRT782 KRT72 ENSG000001704422 KRT792 KRT722
- KRT732 KRT52 KRT6C2 KRT6A2 KRT852 KRT22 KRT752 KRT12
- KRT822 KRT42
18/43 SIMAP similar genes for KRT86 using alignment to 1 protein entry: KRT86_HUMAN(see all similar genes):KRTHB6 KRT121P KRTHB1 KRT81 KRT83 KRT85 KRT1 KRT72 KRT75 KRT82 KRT84 KRTHB2 KRT7 KRT8 KRT1B KRT79 KRT74 KRT6A
KRT86 for paralogs About GeneDecksing
|
Genomic Variants for KRT86 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 12 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for KRT86 (52668459 - 52702947 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 7 variations for KRT86 7 CNVs: 53570 2984 9695 8730 3889 66223 23297 Human Gene Mutation Database (HGMD): KRT86
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KRT86 |
|
Disorders
/ Diseases for KRT86 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
|
KRT86 for disorders About GeneDecksing
OMIM gene information: 601928 OMIM disorders: 158000 UniProtKB/Swiss-Prot: KRT86_HUMAN, O43790
Defects in KRT86 are a cause of monilethrix (MLTRX) [MIM:158000]. Monilethrix is an autosomal dominant hairdisorder characterized clinically by alopecia and follicular papules. Affected hairs have uniform elliptical nodes ofnormal thickness and intermittent constrictions, internodes at which the hair easily breaks. Usually only the scalp isinvolved, but in severe forms, the secondary sexual hair, eyebrows, eyelashes, and nails may also be affected 17 diseases for KRT86: About MalaCardsmonilethrix hair disease hereditary mucosal leukokeratosis x-linked ichthyosis triple-a syndrome epidermolytic hyperkeratosis epidermolysis bullosa simplex pachyonychia congenita epidermolysis bullosa ichthyosis basal cell carcinoma hypotrichosis keratosis alopecia skin disease breast cancer carcinoma 6 diseases from the University of Copenhagen DISEASES database for KRT86:Monilethrix Epidermolytic hyperkeratosis Epidermolysis bullosa simplex Pachyonychia congenita Alopecia Keratosis 3 Novoseek disease relationships for KRT86 gene About this table
Genetic Association Database (GAD): KRT86 Human Genome Epidemiology (HuGE) Navigator: KRT86 (1 document) Export disorders for KRT86 gene to outside databases
|
Publications for KRT86 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 KRT86 gene, integrated from 9 sources (see all 42): (articles sorted by number of sources associating them with KRT86) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype. (PubMed id 10504448)1, 2, 9 Korge B.P....Munro C.S. (1999)
- Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix. (PubMed id 10594761)1, 2, 9 Pearce E.G.... Bowden P.E. (1999)
- Sequences and differential expression of three novel human type-II hair keratins. (PubMed id 9084137)1, 2, 9 Rogers M.A....Schweizer J. (1997)
- Monilethrix: a novel mutation (Glu402Lys) in the helix termination motif and the first causative mutation (Asn114Asp) in the helix initiation motif of the type II hair keratin hHb6. (PubMed id 10469314)1, 2, 9 Winter H.... Schweizer J. (1999)
- Characterization and chromosomal localization of human hair-specific keratin genes and comparative expression during the hair growth cycle. (PubMed id 9457912)1, 2, 9 Bowden P.E.... Hodgins M.B. (1998)
- New consensus nomenclature for mammalian keratins. (PubMed id 16831889)1, 3 Schweizer J....Wright M.W. (2006)
- 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)
- A novel promoter polymorphism (-71C>T) in KRTHB6 gene in Indian population. (PubMed id 15183744)1, 4 Bairwa N.K.... Bamezai R. (2004)
- Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. (PubMed id 9241275)1, 3 Winter H....Schweizer J. (1997)
- A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix. (PubMed id 9402962)1, 2 Winter H....Schweizer J. (1997)
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External Searches for KRT86 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
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|
Genome Databases showing KRT86 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing KRT86 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing KRT86 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 KRT86 | Pharmacogenomics, SNPs, Pathways | | Human Intermediate Filament Mutation Database | http://www.interfil.org | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KRT86 |
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| | |
About This Section
| Patent Information for KRT86 gene: Search GeneIP for patents involving KRT86
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for KRT86 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
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 | |
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variant library, vector shuttling | | OriGene Custom Antibody Services for KRT86 | | OriGene Custom Protein Services for KRT86 | | OriGene Custom Immunoassay Development | | |
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| | | Search Tocris compounds for KRT86 |
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 | | KRT86 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT86 |
|  |  |  | | | Search ThermoFisher Antibodies for KRT86 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRT86 |
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