MFAP3 Gene
protein-coding GIFtS: 49
GCID: GC05P153398
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microfibrillar-associated protein 3
| |
Aliases for MFAP3 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Microfibrillar-Associated Protein 31 2 | | Microfibril-Associated Glycoprotein 32 |
Export aliases for MFAP3 gene to outside databasesPrevious GC identifers: GC05P153490 GC05P154014 GC05P153447 GC05P148559 |
Summaries for MFAP3 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: MFAP3_HUMAN, P55082Function: Component of the elastin-associated microfibrils
|
Genomic Views for MFAP3 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_000005.9 NC_018916.1 NT_029289.11
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the MFAP3 gene promoter: RREB-1 Pax-6 Nkx2-5 STAT5A CUTL1 E4BP4 HNF-3beta GATA-1 HEN1 Msx-1 Other transcription factors
Search SABiosciences Chromatin IP Primers for MFAP3
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MFAP3 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 5q32-q33.2 Ensembl cytogenetic band: 5q33.2 HGNC cytogenetic band: 5q32-q33.2MFAP3 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 5 GeneLoc Exon Structure GeneLoc location for GC05P153398: view genomic region
(about GC identifiers)
Start:
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153,418,466 bp from pter |
End:
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153,600,038 bp from pter |
Size:
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181,573 bases |
Orientation:
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plus strand |
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Proteins for MFAP3 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: MFAP3_HUMAN, P55082 (See
protein sequence)Recommended Name: Microfibril-associated glycoprotein 3 precursor Size: 362 amino acids; 40165 Da
Subcellular location: Cell membrane; Single-pass type I membrane protein (Potential)
Sequence caution: Sequence=BAA91108.1; Type=Frameshift; Positions=238;
Secondary accessions: B2RDK0 B4DKA1 Q9NXA7Alternative splicing: 2 isoforms: P55082-1 P55082-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for MFAP3: NX_P55082
Post-translational modifications:
Glycosylated (Probable)1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P55082 MFAP3 Protein expression data from MOPED and PaxDb: About this image 
 REFSEQ proteins (3 alternative transcripts):
NP_001128509.1 NP_001229265.1 NP_005918.1 ENSEMBL proteins: ENSP00000430852 ENSP00000414219 ENSP00000322956 ENSP00000430602 ENSP00000430007 ENSP00000409933 Reactome Protein details: P55082 Human Recombinant Protein Products for MFAP3:
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:0005886 | plasma membrane |
IEA | -- | | GO:0016021 | integral to membrane |
IEA | -- |
MFAP3 for ontologies About GeneDecksing
MFAP3 Antibody Products: Assay Products for MFAP3: |
Protein
Domains / Families for MFAP3 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
MFAP3 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P55082ProtoNet protein and cluster: P55082 1 Blocks protein family: IPB003598 Immunoglobulin C-2 type
UniProtKB/Swiss-Prot: MFAP3_HUMAN, P55082Similarity: Contains 1 Ig-like C2-type (immunoglobulin-like) domain |
Function for MFAP3 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Molecular Function: UniProtKB/Swiss-Prot Summary: MFAP3_HUMAN, P55082Function: Component of the elastin-associated microfibrils Genatlas biochemistry entry for MFAP3:microfibrillar associated glycoprotein 3,4.kDa,component of microfibrils in the extracellular matrix Phenotypes: 1 MGI phenotypic allele for Mfap3 (no phenotypes)
MFAP3 for phenotypes About GeneDecksing
Animal Models:
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 MFAP3 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MFAP3 (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): MFAP3 (NM_001135037) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MFAP3 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MFAP3  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MFAP3 |
|
Pathways & Interactions for MFAP3 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
| Unified GeneCards pathways  About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Elastic fibre formation | | | 2 | Collagen formation | |
Pathway sources See GeneCards unified pathways Show all pathways
3
Reactome Pathways for MFAP3
MFAP3 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MFAP3
STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)
 1 Interacting protein for MFAP3 (ENSP000003229564) via UniProtKB, MINT, STRING, and/or I2DAbout this table
|
Drugs & Compounds for MFAP3 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 MFAP3 Search CenterWatch for drugs/clinical trials and news about MFAP3 
|
Transcripts for MFAP3 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,
Sirion Biotech,
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 MFAP3 gene (3 alternative transcripts): NM_001135037.1 NM_001242336.1 NM_005927.4 Unigene Cluster for MFAP3: Microfibrillar-associated protein 3 Hs.432818 [show with all ESTs]Unigene Representative Sequence: NM_00124233613 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000522782 ENST00000439768 ENST00000520327 ENST00000521527 ENST00000322602 ENST00000522177 ENST00000520899 ENST00000519928 ENST00000522440 ENST00000518497 ENST00000519612 ENST00000519325 ENST00000436816(uc003lvf.2 uc010jib.2 uc011ddb.1)
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MFAP3 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MFAP3 (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): MFAP3 (NM_001135037) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MFAP3 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MFAP3  |
Additional cDNA sequence: AK000358.1 AK296468.1 AK315573.1 AL049404.1 BC026244.1 6 DOTS entries: DT.115880 DT.120855791 DT.100742782 DT.120855794 DT.91893529 DT.95362715 24/128 AceView cDNA sequences (see all 128): BM830505 AL049404 BU687494 AA970530 AI754856 BQ575760 BQ009115 BQ216617 BU520768 BX493577 AV703428 AI684093 CB163772 AI352003 BM666250 BM665352 BE646168 BM711267 AA443389 AA400291 CA436679 BM988683 BU733982 AA442818 GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for MFAP3 About this scheme
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4a | · | 4b | · | 4c | · | 4d | |
| SP1: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | - |   | - |   | |   | |   | |   | - |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | - |   | |   | |   | |   | - |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
ECgene alternative splicing isoforms for MFAP3
|
Expression for MFAP3 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
| MFAP3 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: GGTGCTAGCC
 About this image See MFAP3 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for MFAP3
SOURCE GeneReport for Unigene cluster: Hs.432818 SABiosciences Custom PCR Arrays for MFAP3
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MFAP3 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MFAP3 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MFAP3 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MFAP3 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MFAP3 |
Orthologs for MFAP3 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 chordates.
Orthologs for MFAP3 gene from 3/9 species (see all 9) About this table
ENSEMBL Gene Tree for MFAP3 (if available) TreeFam Gene Tree for MFAP3 (if available)  |
Paralogs for MFAP3 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for MFAP3 gene
- MFAP3L2
1 SIMAP similar gene for MFAP3 using alignment to 4 protein entries: MFAP3_HUMAN (see all proteins):MFAP3L
MFAP3 for paralogs About GeneDecksing
|
Genomic Variants for MFAP3 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 5 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for MFAP3 (153418466 - 153600038 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for MFAP3: --  | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MFAP3 |
|
Disorders
/ Diseases for MFAP3 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
|
MFAP3 for disorders About MalaCards
MFAP3 for disorders About GeneDecksing
OMIM gene information: 600491
OMIM disorders: --
Human Genome Epidemiology (HuGE) Navigator: MFAP3 (3 documents) Export disorders for MFAP3 gene to outside databases
|
Publications for MFAP3 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 MFAP3 gene integrated from 9 sources: (articles sorted by number of sources associating them with MFAP3) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Molecular cloning of the microfibrillar protein MFAP3 and assignment of the gene to human chromosome 5q32-q33.2. (PubMed id 7782085)1, 2, 3, 9 Abrams W.R.... Rosenbloom J. (1995)
- 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)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
- Genome-Wide Association of BMI in African Americans. (PubMed id 21701570)1 Ng M.C....Bowden D.W. (2011)
- Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1 Bailey S.D....Anand S. (2010)
- Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
- The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)2 Schmutz J.... Rubin E.M. (2004)
- 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)
|
External Searches for MFAP3 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing MFAP3 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing MFAP3 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing MFAP3 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 MFAP3 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for MFAP3 gene: Search GeneIP for patents involving MFAP3
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for MFAP3 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 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory) About This Section
|
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| | | | Browse OriGene Antibodies | | OriGene shRNA RFP for MFAP3 | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MFAP3 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MFAP3 | | OriGene Protein Over-expression Lysate for MFAP3 | | Browse OriGene Fluorogenic Cell Assay Kits | | OriGene siRNA for MFAP3 | | OriGene 3'-UTR Clone for MFAP3 | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MFAP3 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MFAP3 | | 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 MFAP3 | | OriGene Custom Protein Services for MFAP3 | | OriGene Custom Immunoassay Development | | |
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MFAP3 | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MFAP3 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MFAP3 | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MFAP3 | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MFAP3 | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MFAP3 |
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 | | MFAP3 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MFAP3 |
|  |  |  |  | | | Search ThermoFisher Antibodies for MFAP3 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MFAP3 |
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