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SERPINA6 Gene

protein-coding   GIFtS: 60

GC14M093840
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6
(Previous names: serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: CBG)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
CBG 2, 3, 5
Transcortin 3
transcortin 2
Descriptions
Serpin A6 3
corticosteroid binding globulin 2
serine (or cysteine) proteinase inhibitor, clade A (alpha-1
antiproteinase, antitrypsin), member 6 1, 2
serpin peptidase inhibitor, clade A (alpha-1
antiproteinase, antitrypsin), member 6 2
External Ids
HGNC: 15401
Entrez Gene: 8662
UniProtKB: P081853
Ensembl: ENSG000001700997
Search outside databases for aliases for SERPINA6 gene

Previous GC identifers: GC14M092277 GC14M088587 GC14M092760

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for SERPINA6:
This gene encodes an alpha-globulin protein with corticosteroid-binding properties. This is the
major transport protein for glucorticoids and progestins in the blood of most vertebrates. The
gene localizes to a chromosomal region containing several closely related serine protease
inhibitors which may have evolved by duplication events. [provided by RefSeq]

UniProtKB/Swiss-Prot: CBG_HUMAN, P08185
Function: Major transport protein for glucocorticoids and progestins in the blood of almost all
vertebrate species

Gene Wiki entry for SERPINA6

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the SERPINA6 gene  

Entrez Gene cytogenetic band: 14q32.1   Ensembl cytogenetic band:  14q32.13   HGNC cytogenetic band: 14q31-q32.1

SERPINA6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M093840:     (about GC identifiers)

Start:
93,840,338 bp from pter
End:
93,859,441 bp from pter
Size:
19,104 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000014.7  NT_026437.11  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: CBG_HUMAN, P08185 (See protein sequence)
Recommended Name: Corticosteroid-binding globulin precursor  
Size: 405 amino acids; 45141 Da
Subcellular location: Secreted
PDB structure from and Proteopedia :
2VDX (3D)    2VDY (3D)    
Secondary accessions: Q7Z2Q9

Post-translational modifications:

  • N-glycosylated; binds 5 oligosaccharide chains1
  • Glycosylation in position Asn-260 is needed for steroid binding1


  • REFSEQ proteins: NP_001747.2  

    ENSEMBL proteins: 
    ENSP00000342850 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Sigma-Aldrich Proteins for SERPINA6  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (Cortisol Binding Globulin)
    Human Recombinant Proteins from Abnova (SERPINA6)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    2 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576 extracellular region IEA--
    GO:0005615 extracellular space IEA--
    About this table

    Antibodies for SERPINA6: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for SERPINA6
    R&D Systems Antibodies for SERPINA6 (Serpin A6)
    Antibodies from Abcam (Cortisol Binding Globulin), each with their AbpromiseSM
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Novus Biologicals Antibodies for SERPINA6

    Assays for SERPINA6: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    2 InterPro domains/families:
     IPR000295 Prot_inh_Lserp2
     IPR000215 Protease_inhib_I4_serpin


       GeneDecks  SERPINA6 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P08185

    ProtoNet protein and cluster: P08185

    1 Blocks protein family: IPB000215 Serpin

    UniProtKB/Swiss-Prot: CBG_HUMAN, P08185
    Similarity: Belongs to the serpin family

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (SERPINA6)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (SERPINA6)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001756

                  Applied Biosystems Silencer® siRNAs for SERPINA6

                  Sigma-Aldrich siRNA and siRNA Panels for SERPINA6  
                         Sigma-Aldrich shRNA for SERPINA6  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for SERPINA6
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_001756
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_001756
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_001756 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_001756

    UniProtKB/Swiss-Prot: CBG_HUMAN, P08185
    Function: Major transport protein for glucocorticoids and progestins in the blood of almost all
    vertebrate species

    5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Serpina6):

    behavior/neurologicalhomeostasis/metabolismimmune systemliver/biliary systemrenal/urinary system

    2 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004867 serine-type endopeptidase inhibitor activity TAS3299377
    GO:0005496 steroid binding IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


     Gene Network CentralTM Interacting Genes and Proteins Network for  SERPINA6 


    5/11 Interacting proteins for SERPINA6 (ENSP000003428503) via UniProtKB, MINT, and/or STRING (see all 11 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ALBENSP000003702903STRING (score=.822)
    POMCENSP000003701713STRING (score=.82)
    ELANEENSP000002636213STRING (score=.779)
    CELA1ENSP000002936363STRING (score=.769)
    NR3C1ENSP000002315093STRING (score=.75)
    About this table

    2 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810 transport IEA--
    GO:0008211 glucocorticoid metabolic process IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Sigma-Aldrich Small Molecules for SERPINA6:
    Antagonist

    Browse Tocris compounds for SERPINA6
    10/26 Novoseek chemical compound relationships for SERPINA6 gene (see all 26 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    pcbg 73.69 5 1659892 (3)
    acth 71.16 58 17904296 (4), 18694862 (4), 17327382 (3), 7641401 (2) (see all 25)
    1,5-difluoro-2,4-dinitrobenzene 69.24 12 7756349 (2), 1849837 (1)
    steroid 65.54 104 19011238 (4), 11688946 (3), 1778174 (2), 1430842 (2) (see all 34)
    dehydroepiandrosterone sulfate 65.28 25 8827784 (4), 1620285 (2), 12699442 (1), 11518451 (1) (see all 13)
    androstenedione 60.98 10 12699442 (1), 16137729 (1), 7590643 (1), 8574256 (1) (see all 8)
    tsst 60.96 2 17904296 (2)
    progesterone 57.71 64 8540288 (4), 2394772 (3), 10399051 (3), 8213224 (2) (see all 28)
    dhea 56.67 16 18694862 (3), 18271677 (2), 11522257 (2), 1620285 (1)
    17-hydroxyprogesterone 55.28 4 7838905 (1), 8574256 (1), 8689882 (1)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (SERPINA6)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (SERPINA6)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001756

                  Sigma-Aldrich siRNA and siRNA Panels for SERPINA6  
                         Sigma-Aldrich shRNA for SERPINA6  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_001756  

    REFSEQ mRNAs for SERPINA6 gene: 

    NM_001756.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_001756  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_001756
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_001756
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_001756 

    Additional cDNA sequence: 

    AK225591.1 AK290821.1 AK313760.1 BC017462.1 BC036818.1 BC056259.1 BC058021.1 J02943.1 

    8 DOTS entries:

    DT.100736573  DT.113676  DT.432869  DT.92435954  DT.100022546  DT.92435952  DT.95161187  DT.92435951 

    24/138 AceView cDNA sequences (see all 138 ):

    BI793291 R83169 AV661262 BP358843 C21275 BM922154 BM126924 AV660062 
    BP357113 AV661490 CB111934 BC056259 BG751249 BC036818 BI962629 BP359046 
    CB117007 BU075883 BP358115 BG432439 CB164016 BC058021 BP356970 AV659898 

    highest scoring ESTs for SERPINA6:

    AA332640 AA334235 AA334896 BC017462 BC056259 BC058021 BG432064 BG432439 BG564910 BG751249 

    Unigene Cluster for SERPINA6:

    Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6
    Hs.532635  [show with all ESTs]
    Unigene Representative Sequence: BC036818


    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for SERPINA6

    ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5
    SP1:              -                 -                     
    SP2:                                                      
    SP3:              -                                       

    About this scheme

    ECgene alternative splicing isoforms for SERPINA6

    1 Ensembl transcript including schematic representation:
    ENST00000341584  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    SERPINA6 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for SERPINA6

    1 / 2 / 3

    3 probe-sets matching SERPINA6 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    37833_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 J02943 0.80 1.00 0.91 1

    206325_at2, 3 U133-A 1 1.00 1.00 -- -- NM_001756 0.60 1.00 0.82 1

    206325_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  SERPINA6 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: ATCTTCGACC

    SOURCE GeneReport for Unigene cluster: Hs.532635

    Expression variation in blood from EXPOLDB for SERPINA6

    UniProtKB/Swiss-Prot: CBG_HUMAN, P08185
    Tissue specificity: Plasma; synthesized in liver. Has also been identified in a number of
    glycocorticoid responsive cells

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for SERPINA6 gene from 4 species
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    SERPINA61   -- serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, more 79.98(n)
    69.98(a)
    490838  XM_547960.2  XP_547960.2 
    chimpanzee
    (Pan troglodytes)
    SERPINA61   -- serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, more 99.09(n)
    98.02(a)
    453131  XM_510143.2  XP_510143.2 
    rat
    (Rattus norvegicus)
    Serpina61   -- serine (or cysteine) peptidase inhibitor, clade A, more 72.49(n)
    61.77(a)
    299270  NM_001009663.1  NP_001009663.1 
    mouse
    (Mus musculus)
    Serpina61, 5 12 (51.00 cM)5
    serine (or cysteine) peptidase inhibitor, clade A, more1, 5 72.14(n)1
    59.09(a)1
    124011  NM_007618.21  NP_031644.11 
     AI2653185  AK1458425  (see all 11)
    About this table        Species with no ortholog for SERPINA6

    ENSEMBL Gene Tree for SERPINA6
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for SERPINA6 gene
    SERPINA42  SERPINA112  SERPINA72  SERPINA132  SERPINA122  SERPINA92  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/155 NCBI SNPs in SERPINA6 are shown (see all 155 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 92)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 14 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    --
    rs7150331,2
    A,C,F,H,O93860391(-) GATCAA/C/G/
            
    TCAGT
    1 -- ng31 tfbs38NA EA WA 598
    rs19561771,2
    C,F,H93859563(-) CAGCTC/ATCCTG 1 -- ng318Minor allele frequency- A:0.23EU EA WA 838
    --
    rs22285411,2
    C,F,H93845974(-) ATGACG/TCGGAG 1 A/S mis19Minor allele frequency- C:0.03MN EU EA NA WA 810
    --
    rs65754151,2
    A,C93861354(+) tggagA/Tacggt 1 -- ng310--------
    --
    rs38278951,2
    A,C93860096(-) CTCTCA/C/G/
            
    TTCAT
    1 -- ng310--------
    rs22815171,2
    C,F93859540(-) ATTGGT/CTAATG 1 -- ng31 tfbs36Minor allele frequency- C:0.34EA NA MN 2044
    --
    rs65754141,2
    A,C93861287(+) taataA/Gccata 1 -- ng31 tfbs30--------
    --
    rs121471571,2
    A93860554(+) TGGAGA/GCACCT 1 -- ng310--------
    rs37483201,2
    C,F,H93850361(-) ATGACC/TATGGG 1 T/T syn118Minor allele frequency- T:0.15EA NA EU WA 2966
    --
    rs10423941,2
    C,F93842257(-) GACCTC/TGGAGA 1 L/L syn1 ese311Minor allele frequency- T:0.16MN EU EA WA NA 2368
    About this table

    HapMap Linkage Disequilibrium images for SERPINA6 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 122500   disorders: 611489  

    UniProtKB/Swiss-Prot: CBG_HUMAN, P08185

  • Defects in SERPINA6 are a cause of corticosteroid-binding globulin deficiency (CBG
    deficiency) [MIM:611489]. CBG deficiency is an extremely rare hereditary disorder characterized by
    reduced corticosteroid-binding capacity with normal or low plasma corticosteroid-binding globulin
    concentration, and normal or low basal cortisol levels associated with hypo/hypertension and
    muscle fatigue
  • 10/33 Novoseek disease relationships for SERPINA6 gene (see all 33 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypercortisolemia 65.42 1 9247983 (1)
    hypercortisolism 48.08 3 18976646 (1)
    social stress 40.64 3 9691975 (3)
    insulin resistance 26.91 32 12364459 (5), 10651759 (4), 18949680 (4), 15171749 (3) (see all 7)
    insulin sensitivity 25.36 12 10651759 (4), 10487686 (2), 10726905 (1), 11586502 (1)
    hyperthyroidism 25.28 2 17327382 (1), 8130892 (1)
    response acute phase 24.13 3 12727952 (2), 9360537 (1)
    shock septic 22.18 10 11685298 (3), 18976646 (2), 9360537 (2), 8440110 (1)
    hepatoblastoma 14.59 1 10487686 (1)
    sepsis 12.14 8 17578761 (3), 16973979 (1), 2370299 (1), 1504007 (1) (see all 5)
    About this table

    Human Gene Mutation Database: SERPINA6
    Genetic Association Database: SERPINA6
    Human Genome Epidemiology Navigator: SERPINA6 (7 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/289 PubMed articles for SERPINA6 gene (see all 289 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 866 HGNC: 1540 AceView: SERPINA6 Ensembl:ENSG00000170099 euGenes: HUgn866
    ECgene: SERPINA6 H-InvDB: SERPINA6
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    Wikipedia http://en.wikipedia.org/wiki/Transcortin
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for SERPINA6:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for SERPINA6 Antibodies for SERPINA6
     Explore super-pooled esiRNAs Proteins for SERPINA6
     Lentivirus-delivered shRNAs for SERPINA6 Small molecules for SERPINA6
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