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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CYP4F22 Gene

protein-coding   GIFtS: 50
GCID: GC19P015619

cytochrome P450, family 4, subfamily F, polypeptide 22

 Explore 12 diseases affiliated with
CYP4F22 via our new
 Human Malady Compendium 
Biological research products
for CYP4F22
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Cytochrome P450, Family 4, Subfamily F, Polypeptide 221 2     INLNE2
LI32 5     Cytochrome P450 4F222
FLJ395011     Cytochrome P450, Family 2, Subfamily E, Polypeptide 2 Homolog2
ARCI52     EC 1.14.14.-3

External Ids:    HGNC: 268201   Entrez Gene: 1264102   Ensembl: ENSG000001719547   OMIM: 6114955   UniProtKB: Q6NT553   

Export aliases for CYP4F22 gene to outside databases

Previous GC identifers: GC19P015484 GC19P015187


(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 CYP4F22:
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are
monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and
other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19 and encodes an enzyme thought
to play a role in the 12(R)-lipoxygenase pathway. Mutations in this gene are the cause of ichthyosis lamellar type 3.
(provided by RefSeq, Jul 2008)

Gene Wiki entry for CYP4F22


(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_000019.9  NC_018930.1  NT_011295.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CYP4F22 gene promoter:
         TBP   p53   POU2F1   AML1a   POU2F1a   ATF-2   c-Jun   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCYP4F22 promoter sequence
   Search SABiosciences Chromatin IP Primers for CYP4F22

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CYP4F22


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.12   Ensembl cytogenetic band:  19p13.12   HGNC cytogenetic band: 19p13.12

CYP4F22 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYP4F22 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P015619:  view genomic region     (about GC identifiers)

Start:
15,619,336 bp from pter      End:
15,663,128 bp from pter
Size:
43,793 bases      Orientation:
plus strand

(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: CP4FN_HUMAN, Q6NT55 (See protein sequence)
Recommended Name: Cytochrome P450 4F22  
Size: 531 amino acids; 61958 Da
Cofactor: Heme group (By similarity)
Subcellular location: Endoplasmic reticulum membrane; Peripheral membrane protein (By similarity). Microsome membrane;
Peripheral membrane protein (By similarity)
Secondary accessions: Q8N8H4

Explore the universe of human proteins at neXtProt for CYP4F22: NX_Q6NT55

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6NT55

  • CYP4F22 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_775754.2  
    ENSEMBL proteins: 
     ENSP00000269703  

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    Novus Biologicals CYP4F22 Lysates
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CYP4F22

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005792microsome ----


    CYP4F22 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for CYP4F22


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CYP4F22 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR001128 Cyt_P450
     IPR017972 Cyt_P450_CS
     IPR002401 Cyt_P450_E_grp-I

    Graphical View of Domain Structure for InterPro Entry Q6NT55

    ProtoNet protein and cluster: Q6NT55

    UniProtKB/Swiss-Prot: CP4FN_HUMAN, Q6NT55
    Similarity: Belongs to the cytochrome P450 family


    (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

    Enzyme Number (IUBMB): EC 1.14.14.-1

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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004497monooxygenase activity IEA--
    GO:0005506iron ion binding IEA--
    GO:0009055electron carrier activity IEA--
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA--
    GO:0020037heme binding IEA--


    CYP4F22 for ontologies           About GeneDecksing



    (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-pathwaycontained gene-specific pathways
    1Cytochrome P450 - arranged by substrate type
    cytochrome P4500.73
    2Biological oxidations
    metapathway biotransformation0.41


    2 BioSystems Pathways for CYP4F22 
        cytochrome P450
    metapathway biotransformation


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CYP4F22

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for CYP4F22 (ENSP000002697034) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    (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 Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CYP4F22

    1 HMDB Compound for CYP4F22    About this table
    CompoundSynonyms CAS #PubMed Ids
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    Search CenterWatch for drugs/clinical trials and news about CYP4F22 / CP4FN 

    (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 CYP4F22 gene: 
    NM_173483.3  

    Unigene Cluster for CYP4F22:

    Cytochrome P450, family 4, subfamily F, polypeptide 22
    Hs.156452  [show with all ESTs]
    Unigene Representative Sequence: NM_173483
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000269703(uc002nbh.4)

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    hsa-miR-3184 hsa-miR-663 hsa-miR-545 hsa-miR-1908 hsa-miR-423-5p hsa-miR-744 hsa-miR-3180-3p hsa-miR-3202
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    Inhib. RNA
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    Additional cDNA sequence: 

    AK096820.1 BC069351.1 BC093894.1 BC093896.1 

    1 DOTS entry:

    DT.70104375 

    9 AceView cDNA sequences:

    BC069351 BG675134 AI341068 AI274139 BG674500 AW025687 NM_173483 AK096820 
    BF770977 

    GeneLoc Exon Structure


    (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

    CYP4F22 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGAATGAGGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See CYP4F22 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CYP4F22

    SOURCE GeneReport for Unigene cluster: Hs.156452
        SABiosciences Custom PCR Arrays for CYP4F22
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP4F22

    (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 eukaryotes.

    Orthologs for CYP4F22 gene from 6/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves LOC1008592771 cytochrome P450 4F22-like 69.77(n)
    66.45(a)
      100859277  XM_003644029.1  XP_003644077.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    67(a)
    1 → many
    2(79936816-79963743)
    African clawed frog
    (Xenopus laevis)
    Amphibia AB114053.12   -- 74.53(n)    AB114053.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cyp4f36
    cytochrome P450, family 4, subfamily F, polypeptid...
    46(a)
    1 → many
    12(49851155-49871433)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CYP735A21 cytokinin trans-hydroxylase 41.56(n)
    30.08(a)
      843031  NM_105381.4  NP_176882.1 
    rice
    (Oryza sativa)
    Liliopsida Os09g04033001 hypothetical protein 46.19(n)
    30.48(a)
      9269428  NM_001188894.1  NP_001175823.1 


    ENSEMBL Gene Tree for CYP4F22 (if available)
    TreeFam Gene Tree for CYP4F22 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CYP4F22 gene
    CYP4F32  CYP4F22  CYP4F112  CYP46A12  ENSG000002256072  CYP4B12  CYP3A52  CYP4X12  
    TBXAS12  CYP3A432  CYP3A42  CYP3A72  CYP4V22  CYP4A222  CYP4A112  CYP4F122  
    CYP4Z12  
    13 SIMAP similar genes for CYP4F22 using alignment to 1 protein entry:     CP4FN_HUMAN:
    CYP4F2    CYP4F3    CYP4F11    CYP4F12    DKFZp761K058    CYP4F8
    CYP4B1    CYP4A11    CYP4Z1    CYP4Z2P    CYP4X1    CYP4A22
    CYP4V2

    CYP4F22 for paralogs           About GeneDecksing



    (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

    10/917 NCBI SNPs in CYP4F22 are shown (see all 917    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs739299191,2
    C,--15185369(+) CCCACC/GCTTTG 1 -- us2k12Minor allele frequency- G:0.15WA 120
    rs104182491,2
    C,F,--15185409(+) CCCTCT/CCAAAC 1 -- us2k11Minor allele frequency- C:0.03WA 118
    rs791114561,2
    C,F,--15185560(+) ATAAGC/TTCTTC 1 -- us2k13Minor allele frequency- T:0.15WA CSA 122
    rs104248741,2
    C--15186088(+) tcacaT/Ccctcc 1 -- us2k12Minor allele frequency- C:0.00NA 4
    rs1999503751,2
    C--15186354(+) CCACCA/GANNNN 1 -- us2k10--------
    rs104178731,2
    C,F,A,H,--15186485(+) GTGGCG/AGAGGG 1 -- us2k17Minor allele frequency- A:0.30NA WA EA 366
    rs1130373671,2
    C,--15186526(+) GCTGCT/CTGTTG 1 -- us2k13Minor allele frequency- C:0.05WA NA 240
    rs777113991,2
    F,--15186782(+) GTGTGG/AGAGGA 1 -- us2k11Minor allele frequency- A:0.03NA 120
    rs621159511,2
    --15187076(+) AAAGGA/GTTGGG 1 -- us2k10--------
    rs104012601,2
    C,F,--15187375(+) CCCCGA/TCGTTT 1 -- int18Minor allele frequency- T:0.21NA WA EA 368

    HapMap Linkage Disequilibrium report for CYP4F22 (15619336 - 15663128 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for CYP4F22
         1 Indel: 40266
    Human Gene Mutation Database (HGMD): CYP4F22

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    (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

    CYP4F22 for disorders           About GeneDecksing

    OMIM gene information: 611495   
    OMIM disorders: 604777  
    UniProtKB/Swiss-Prot: CP4FN_HUMAN, Q6NT55
  • Defects in CYP4F22 are the cause of ichthyosis lamellar type 3 (LI3) [MIM:604777]. LI is a non-bullous
  • ichthyosis, a skin disorder characterized by abnormal cornification of the epidermis. It is one the most severe forms
    of ichthyoses apparent at birth and persisting throughout life. LI patients are born encased in a tight, shiny,
    translucent covering called collodion membrane. Over the first weeks of life, the collodion membrane is gradually
    replaced by generalized large, dark brown, plate-like scales with minimal to no erythroderma. Tautness of facial skin
    commonly results in ectropion, eclabium and scarring alopecia of the scalp. Common complications are severe heat
    intolerance and recurrent ear infections

    12 diseases for CYP4F22:    About MalaCards
    ichthyosis    ichthyosis lamellar 3    congenital ichthyosiform erythroderma    autosomal recessive congenital ichthyosis
    scrub typhus    spinal cancer    typhus    ectropion
    cholesterol    alopecia    tuberculosis    mycobacterium tuberculosis

    3 diseases from the University of Copenhagen DISEASES database for CYP4F22:
    Congenital ichthyosiform erythroderma     Spinal meningioma     Scrub typhus
    GeneTests: CYP4F22
    Autosomal Recessive Congenital Ichthyosis


    Export disorders for CYP4F22 gene to outside databases

    (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 CYP4F22 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with CYP4F22)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. (PubMed id 16436457)1, 2, 3 Lefevre C.... Fischer J. (2006)
    2. CYP4F22 is highly expressed at the site and timing of onset of keratinization during skin development. (PubMed id 22209317)1 Sasaki K....Shimizu H. (2012)
    3. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    4. Finding homes for orphan cytochrome P450s: CYP4V2 and CYP4F22 in disease states. (PubMed id 21540472)1 Kelly E.J....Rettie A.E. (2011)
    5. Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism. (PubMed id 18245815)1 Elias P.M....Schmuth M. (2008)
    6. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    9. Comparison of cytochrome P450 (CYP) genes from the mouse and human genomes, including nomenclature recommendations for genes, pseudogenes and alternative-splice variants. (PubMed id 15128046)1 Nelson D.R....Nebert D.W. (2004)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 126410 HGNC: 26820 AceView: FLJ39501 Ensembl:ENSG00000171954 euGenes: HUgn126410
    ECgene: CYP4F22 H-InvDB: CYP4F22

    (According to HUGE)
    About This Section
      --

    (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
    NameDescription
    PharmGKB entry for CYP4F22 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CYP4F22

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CYP4F22 gene:
    Search GeneIP for patents involving CYP4F22

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (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),
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