MFRP Gene
protein-coding GIFtS: 45
GCID: GC11M119244
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|
membrane frizzled-related protein
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Aliases for MFRP gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Membrane Frizzled-Related Protein1 2 | | C1QTNF51 | | NNO21 2 | | FLJ305701 | | Membrane-Type Frizzled-Related Protein2 3 | | Rd61 | | MCOP52 5 | | RD62 |
Export aliases for MFRP gene to outside databasesPrevious GC identifers: GC11M121209 GC11M120722 GC11M118749 GC11M118714 GC11M115150 |
Summaries for MFRP 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 MFRP: This gene encodes a member of the frizzled-related proteins. The encoded protein may play a role in eye development, asmutations in this gene have been associated with nanophthalmos, posterior microphthalmia, retinitis pigmentosa,foveoschisis, and optic disc drusen. The protein is encoded by a bicistronic mRNA, which also encodes C1q and tumornecrosis factor related protein 5.(provided by RefSeq, Feb 2009) UniProtKB/Swiss-Prot: MFRP_HUMAN, Q9BY79Function: May play a role in eye development Gene Wiki entry for MFRP
|
Genomic Views for MFRP 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
| Regulatory elements: Search SABiosciences Regulatory transcription factor binding sites for MFRP Other transcription factors
Search SABiosciences Chromatin IP Primers for MFRP
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MFRP |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 11q23 Ensembl cytogenetic band: 11q23.3 HGNC cytogenetic band: 11q23.3MFRP Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 11 GeneLoc Exon Structure GeneLoc location for GC11M119244: view genomic region
(about GC identifiers)
Start:
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119,209,652 bp from pter |
End:
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119,217,383 bp from pter |
Size:
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7,732 bases |
Orientation:
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minus strand |
1 alternative location:
| Chr11- 119,209,652-119,217,368 |
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Proteins for MFRP 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: MFRP_HUMAN, Q9BY79 (See
protein sequence)Recommended Name: Membrane frizzled-related protein Size: 579 amino acids; 62212 Da
Subcellular location: Membrane; Single-pass type II membrane protein (Potential)
Developmental stage: Expressed in fetal brain
Secondary accessions: B0YJ36 Q335M3 Q96DQ9Explore the universe of human proteins at neXtProt for MFRP: NX_Q9BY79
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9BY79 MFRP Protein expression data from MOPED and PaxDb: About this image 
 REFSEQ proteins: NP_113621.1 ENSEMBL proteins: ENSP00000391664 ENSP00000353291 ENSP00000450509 Human Recombinant Protein Products for MFRP:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table
MFRP for ontologies About GeneDecksing
MFRP Antibody Products: Assay Products for MFRP: |
Protein
Domains / Families for MFRP gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
MFRP for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9BY79ProtoNet protein and cluster: Q9BY79 2 Blocks protein families: IPB000859 CUB domain IPB002172 Low density lipoprotein-receptor
UniProtKB/Swiss-Prot: MFRP_HUMAN, Q9BY79Similarity: Contains 2 CUB domainsSimilarity: Contains 1 FZ (frizzled) domainSimilarity: Contains 2 LDL-receptor class A domains |
Function for MFRP 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: MFRP_HUMAN, Q9BY79Function: May play a role in eye development 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 | -- |
MFRP for ontologies About GeneDecksing
Phenotypes: 3 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Mfrp):
MFRP 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 MFRP (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MFRP OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: MFRP (NM_031433) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MFRP | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MFRP  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MFRP |
|
Pathways & Interactions for MFRP 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 MFRP
STRING Interaction
Network Preview (showing 2 interactants - click image to see more details)
 3 Interacting proteins for MFRP (Q9BY793 ENSP000003916644) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table
MFRP for ontologies About GeneDecksing
|
Drugs & Compounds for MFRP 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 MFRP Search CenterWatch for drugs/clinical trials and news about MFRP 
|
Transcripts for MFRP 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 MFRP gene: NM_031433.2 5 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000449574(uc010rzg.1) ENST00000360167 ENST00000529147 ENST00000526059 ENST00000555262(uc001pwj.2)
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MFRP (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MFRP OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: MFRP (NM_031433) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MFRP | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MFRP  |
24/96 AceView cDNA sequences (see all 96): BM929480 BF724241 NM_015645 CA390714 AF086482 AI619600 BM684116 AI564511 BU742804 BM547549 CK904254 BM924569 AI924106 CA397875 BM966810 BM021127 BM966954 BE138819 BM052913 AL110261 AI805087 AI783751 NM_031433 BM719761 GeneLoc Exon Structure
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Expression for MFRP 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
| MFRP expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: --
 About this image See MFRP Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for MFRP
UniProtKB/Swiss-Prot: MFRP_HUMAN, Q9BY79Tissue specificity: Specifically expressed in brain. Strongly expressed in medulla oblongata and to a lower extent inhippocampus and corpus callosum. Expressed in keratinocytes SABiosciences Custom PCR Arrays for MFRP
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MFRP Browse OriGene validated miRNA SYBR primer pairs
| |  | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat MFRP | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MFRP | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MFRP | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MFRP |
Orthologs for MFRP 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 MFRP gene from 3/13 species (see all 13) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
chicken (Gallus gallus) |
Aves |
LOC1008592991 |
membrane frizzled-related protein-like |
63.63(n) 54.27(a) |
  |
100859299 XM_003642601.1 XP_003642649.1 |
lizard (Anolis carolinensis) |
Reptilia |
MFRP6 |
-- |
53(a) |
1 → many |
GL343797.1(1526-15972) |
zebrafish (Danio rerio) |
Actinopterygii |
CABZ01033205.16 |
-- |
49(a) |
1 → many |
15(148682-156045) |
ENSEMBL Gene Tree for MFRP (if available) TreeFam Gene Tree for MFRP (if available)  |
Paralogs for MFRP gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for MFRP gene
- TLL22 CUBN2 CDCP22 PCOLCE2 BMP12 PCOLCE22 NETO22 NETO12
- TLL12
2 SIMAP similar genes for MFRP using alignment to 2 protein entries: MFRP_HUMAN (see all proteins):C1QTNF5 CUBN
MFRP for paralogs About GeneDecksing
|
Genomic Variants for MFRP 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 11 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for MFRP (119209652 - 119217383 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for MFRP: -- Human Gene Mutation Database (HGMD): MFRP
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MFRP |
|
Disorders
/ Diseases for MFRP 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
|
MFRP for disorders About GeneDecksing
OMIM gene information: 606227 OMIM disorders: 611040 UniProtKB/Swiss-Prot: MFRP_HUMAN, Q9BY79
Defects in MFRP are the cause of nanophthalmos 2 (NNO2) [MIM:609549]. NNO2 is a rare autosomal recessivedisorder of eye development characterized by extreme hyperopia and small functional eyes Defects in MFRP are the cause of microphthalmia isolated type 5 (MCOP5) [MIM:611040]. Microphthalmia is aclinically heterogeneous disorder of eye formation, ranging from small size of a single eye to complete bilateralabsence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina andchoroid, cataract and other abnormalities like cataract may also be present. MCOP5 is characterized by posteriormicrophthalmia, retinitis pigmentosa, foveoschisis and optic disc drusen 19 diseases for MFRP: About MalaCardsretinitis pigmentosa angle-closure glaucoma microphthalmia primary angle-closure glaucoma optic disk drusen late-onset retinal degeneration retinitis age related macular degeneration corpus callosum retinal degeneration macular degeneration pigmentary retinopathy glaucoma hyperopia fanconi's anemia myopia anemia choroiditis isolated microphthalmia 4 diseases from the University of Copenhagen DISEASES database for MFRP:Optic disk drusen Microphthalmia Hyperopia Retinal degeneration 3 Novoseek disease relationships for MFRP gene About this table
Human Genome Epidemiology (HuGE) Navigator: MFRP (3 documents) Export disorders for MFRP gene to outside databases
|
Publications for MFRP 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 MFRP gene, integrated from 9 sources (see all 26): (articles sorted by number of sources associating them with MFRP) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Molecular cloning and characterization of MFRP, a novel gene encoding a membrane-type frizzled-related protein. (PubMed id 11263980)1, 2, 3, 9 Katoh M. (2001)
- A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. (PubMed id 17167404)1, 2, 9 Ayala-Ramirez R.... Zenteno J.C. (2006)
- Mutation screen of the membrane-type frizzled-related protein (MFRP) gene in patients with inherited retinal degenerations. (PubMed id 16352475)1, 2, 9 Pauer G.J.T.... Hagstrom S.A. (2005)
- Bone morphogenetic protein-2 modulates Wnt and frizzled expression and enhances the canonical pathway of Wnt signaling in normal keratinocytes. (PubMed id 16442268)1, 2 Yang L.... Hashimoto K. (2006)
- Extreme hyperopia is the result of null mutations in MFRP, which encodes a frizzled-related protein. (PubMed id 15976030)1, 2 Sundin O.H.... Weinberg E.M. (2005)
- Sequencing arrays for screening multiple genes associated with early- onset human retinal degenerations on a high-throughput platform. (PubMed id 16123440)1, 2 Mandal M.N.A.... Ayyagari R. (2005)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Developmental basis of nanophthalmos: MFRP Is required for both prenatal ocular growth and postnatal emmetropization. (PubMed id 18363166)1, 9 Sundin O.H....Lutty G.A. (2008)
- Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopia. (PubMed id 18334955)1, 9 Metlapally R....Young T.L. (2008)
- Evaluation of MFRP as a candidate gene for high hyperopia. (PubMed id 19169412)1, 9 Wang P....Zhang Q. (2009)
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External Searches for MFRP gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing MFRP gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing MFRP gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing MFRP 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 MFRP | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for MFRP gene: Search GeneIP for patents involving MFRP
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for MFRP 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 MFRP | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MFRP | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MFRP | | OriGene Protein Over-expression Lysate for MFRP | | Browse OriGene Fluorogenic Cell Assay Kits | | OriGene siRNA for MFRP | | Browse 3'-UTR reporter clones for miRNA target validation | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MFRP | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MFRP | | 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,
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| | | Search Tocris compounds for MFRP |
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 | | MFRP Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MFRP |
|  |  |  |  | | | Search ThermoFisher Antibodies for MFRP |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MFRP |
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