MYBPH Gene
protein-coding GIFtS : 53
GCID: GC01 M203136
myosin binding protein H (Previous name: myosin-binding protein H )
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Aliasesfor MYBPH 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 Myosin Binding Protein H 1 2 Myosin-Binding Protein H1 2 H-Protein1 MyBP-H3 MyBP-H3
Export aliases for MYBPH gene to outside databases Previous GC identifers: GC01M200820 GC01M198566 GC01M199603 GC01M200425 GC01M199868 GC01M201403 GC01M174302
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Summariesfor MYBPH gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section UniProtKB/Swiss-Prot: MYBPH_HUMAN, Q13203 Function : Binds to myosin; probably involved in interaction with thick myofilaments in the A-band
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Genomic Viewsfor MYBPH 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_000001.10 NC_018912.1 NT_004487.19 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the MYBPH gene promoter: c-Fos RP58 AML1a AP-1 c-Jun RSRFC4 Other transcription factors Search SABiosciences Chromatin IP Primers for MYBPH Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MYBPH
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 1q32.1 Ensembl cytogenetic band: 1q32.1 HGNC cytogenetic band: 1q32.1 MYBPH Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 1 GeneLoc Exon Structure
GeneLoc location for GC01M203136: view genomic region
(about GC identifiers )
Start:
203,136,939 bp from pter
End:
203,144,942 bp from pter
Size:
8,004 bases
Orientation:
minus strand
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Proteinsfor MYBPH 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: MYBPH_HUMAN, Q13203 (See
protein sequence )Recommended Name: Myosin-binding protein H Size : 477 amino acids; 52050 Da
Secondary accessions : Q16886 Q86YC5Explore the universe of human proteins at neXtProt for MYBPH: NX_Q13203 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q13203 MYBPH Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_004988.2 ENSEMBL proteins: ENSP00000255416 Human Recombinant Protein Products: 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:0032982 myosin filament
IEA --
MYBPH for ontologies About GeneDecksing MYBPH Antibody Products: Assay Products for MYBPH:
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Protein
Domains / Familiesfor MYBPH gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
MYBPH for domains About GeneDecksing 5/6 InterPro domains/families (see all 6 ):
Graphical View of Domain Structure for InterPro Entry Q13203 ProtoNet protein and cluster: Q13203
3 Blocks protein families : IPB003598 Immunoglobulin C-2 type IPB003962 Fibronectin type III repeat signature IPB013098 Immunoglobulin I-set UniProtKB/Swiss-Prot: MYBPH_HUMAN, Q13203 Similarity : Belongs to the immunoglobulin superfamily. MyBP familySimilarity : Contains 2 fibronectin type-III domainsSimilarity : Contains 2 Ig-like C2-type (immunoglobulin-like) domains
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Functionfor MYBPH 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: MYBPH_HUMAN, Q13203 Function : Binds to myosin; probably involved in interaction with thick myofilaments in the A-band
Genatlas biochemistry entry for MYBPH : myosin binding protein H 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 MYBPH (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for MYBPHOriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: MYBPH (NM_004997 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MYBPH Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat MYBPH
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYBPH
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:0008307 structural constituent of muscle
TAS 8486381
MYBPH for ontologies About GeneDecksing 1 GenomeRNAi human phenotype for MYBPH :
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Pathways & Interactionsfor MYBPH 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 G13 Signaling Pathway 2 Actin Nucleation by ARP-WASP Complex
1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for MYBPH 1 BioSystems Pathway for MYBPH Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MYBPH STRING Interaction
Network Preview (showing 5 interactants - click image to see 18)5/21 Interacting proteins for MYBPH (Q13203 1 , 2 , 3 ENSP00000255416 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 21 )About this table Gene Ontology (GO): 2 biological process terms (GO ID links to tree view) : About this table
MYBPH for ontologies About GeneDecksing
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Drugs & Compoundsfor MYBPH 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 MYBPH Search CenterWatch for drugs/clinical trials and news about MYBPH
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Transcriptsfor MYBPH 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 MYBPH gene: NM_004997.2 Unigene Cluster for MYBPH:
Myosin binding protein H Hs.927 [show with all ESTs ] Unigene Representative Sequence: BC044226 1 Ensembl transcript including schematic representation, and UCSC links where relevant : ENST00000255416 (uc001gzh.1 ) Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for MYBPH (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for MYBPHOriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: MYBPH (NM_004997 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MYBPH Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat MYBPH
Additional cDNA sequence: BC044226.1 L05606.1
3 DOTS entries : DT.440979 DT.213277
DT.86852212 24/30 AceView cDNA sequences (see all 30 ):
BQ922099 BM711318 BX281879 AA453125 AI351314 L05606 BE857008 NM_004997 BM665885 AA460489 BC044226 BP432087 AI368147 BF338896 BE876681 AI143255 BQ435439 AA971239 AA779449 AA533198 AA461058 AI051059 AI038319 AI374876 GeneLoc Exon Structure
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Expression for MYBPH 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 MYBPH expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: GTGCAGAAGG
About this image MYBPH expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See MYBPH Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for MYBPH SOURCE GeneReport for Unigene cluster: Hs.927 UniProtKB/Swiss-Prot: MYBPH_HUMAN, Q13203 Tissue specificity : Skeletal muscle SABiosciences Custom PCR Arrays for MYBPH Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for MYBPHBrowse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat MYBPH QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat MYBPH QIAGEN QuantiFast Probe-based Assays in human , mouse , rat MYBPH In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYBPH
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Orthologsfor MYBPH 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 animals.
Orthologs for MYBPH gene from 4/15 species (see all 15 ) About this table
ENSEMBL Gene Tree for MYBPH (if available)TreeFam Gene Tree for MYBPH (if available)
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Paralogsfor MYBPH gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for MYBPH gene MYOM1 2 IGSF22 2 IGFN1 2 MYBPC2 2 MYBPC1 2 MYBPC3 2 MYBPHL 2 MYOM3 2 MYOM2 2 9 SIMAP similar genes for MYBPH using alignment to 1 protein entry: MYBPH_HUMAN :MYBPHL MYBPC2 DKFZp451H115 MYBPC1 DKFZp451B236 DKFZp451M091 DKFZp779M1050 MYBPC3 IGSF22
MYBPH for paralogs About GeneDecksing
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Genomic Variantsfor MYBPH 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 1 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for MYBPH (203136939 - 203144942 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for MYBPH: --
SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing MYBPH
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Disorders
/ Diseasesfor MYBPH 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
MYBPH for disorders About GeneDecksing
OMIM gene information: 160795
OMIM disorders : --7 diseases for MYBPH : About MalaCards hypertrophic cardiomyopathy familial hypertrophic cardiomyopathy essential hypertension measles cardiomyopathy hypertension neuronitis 2 Novoseek disease relationships for MYBPH gene About this table
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
measles
45.2
1
15659756 (1)
prolapse
38.9
5
16579921 (4), 12861146 (1)
Human Genome Epidemiology (HuGE) Navigator: MYBPH (1 document)Export disorders for MYBPH gene to outside databases
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Publicationsfor MYBPH 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 MYBPH gene, integrated from 9 sources (see all 28 ): (articles sorted by number of sources associating them with MYBPH) Utopia : connect your pdf to the dynamic world of online information
Human myosin-binding protein H (MyBP-H): complete primary sequence, genomic organization, and chromosomal localization. (PubMed id 8486381) 1 , 2 , 3, 9 Vaughan K.T....Fischman D.A. (1993) 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) Mutations in beta-myosin S2 that cause familial hypertrophic cardiomyopathy (FHC) abolish the interaction with the regulatory domain of myosin-binding protein-C. (PubMed id 10024460) 1 , 9 Gruen M. and Gautel M. (1999) MYBPH, a transcriptional target of TTF-1, inhibits ROC K1, and reduces cell motility and metastasis. (PubMed id 22085929) 1 Hosono Y....Takahashi T. (2012) A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473) 1 Wagner S.A....Choudhary C. (2011) Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201) 1 Abdelmohsen K....Gorospe M. (2009) Follow-up of a major linkage peak on chromosome 1 rev eals suggestive QTLs associated with essential hypertension: GenNet study. (PubMed id 19536175) 1 Ehret G.B....Chakravarti A. (2009) The C-terminal IgI domains of myosin-binding proteins C and H (MyBP-C and MyBP-H) are both necessary and sufficient for the intracellular crosslinking of sarcomeric myosin in transfected non-muscle cells. (PubMed id 12154082) 1 Welikson R.E. and Fischman D.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932) 1 Strausberg R.L....Marra M.A. (2002) Nucleotide and deduced amino acid sequences of rat myosin binding protein H (MyBP-H). (PubMed id 9868543) 9 Jung J....Lee K. (1998)
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External Searches for MYBPH gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing MYBPH 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 MYBPH gene
(According to HUGE )
About This Section --
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Specialized Databases showing MYBPH 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 MYBPH Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for MYBPH gene: Search GeneIP for patents involving MYBPH GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor MYBPH 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
OriGene Antibodies for MYBPH OriGene shRNA RFP for MYBPH OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for MYBPH OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for MYBPH OriGene Protein Over-expression Lysate for MYBPH Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for MYBPH OriGene 3'-UTR Clone for MYBPH OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for MYBPH OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for MYBPH 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 OriGene Purified Protein for MYBPH OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for MYBPH OriGene Custom Protein Services for MYBPH OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MYBPH QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing MYBPH QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MYBPH QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat MYBPH QIAGEN QuantiFast Probe-based Assays in human , mouse , rat MYBPH QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat MYBPH
Search Tocris compounds for MYBPH
MYBPH Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYBPH
Search ThermoFisher Antibodies for MYBPH
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat MYBPH
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Aliases for MYBPH
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Disorders / Diseases for MYBPH
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Expression for MYBPH
Function for MYBPH
Genomic Views for MYBPH
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Pathways / Interactions for MYBPH
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