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Aliases & Descriptions for PROC gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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User Feedback Aliases & Descriptions protein C (inactivator of coagulation factors Va and VIIIa)1 2 protein C2 Autoprothrombin IIA2 3 vitamin K-dependent protein C2 Anticoagulant protein C2 3 APC2 Blood coagulation factor XIV2 3 PROC12 PC2 5 EC 3.4.21.693
Search outside databases for aliases for PROC genePrevious GC identifers: GC02P125475 GC02P126102 GC02P128080 GC02P128269 GC02P127892
Summaries for PROC gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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User Feedback Entrez Gene summary for PROC : This gene encodes a vitamin K-dependent plasma glycoprotein. The encoded protein is cleaved to its activated form by the thrombin-thrombomodulin complex. This activated form contains a serine protease domain and functions in degradation of the activated forms of coagulation factors V and VIII. Mutations in this gene have been associated with thrombophilia due to protein C deficiency, neonatal purpura fulminans, and recurrent venous thrombosis. UniProtKB/Swiss-Prot: PROC_HUMAN, P04070 Function : Protein C is a vitamin K-dependent serine protease that regulates blood coagulation by inactivating factorsVa and VIIIa in the presence of calcium ions and phospholipids Gene Wiki entry for PROC (Protein C)
Genomic Views for PROC gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
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Ensembl (release 56) ,
Regulatory elements and Epigenetics data according to
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User Feedback Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the PROC gene upstream (promoter) region :CREB Max1 deltaCREB ATF C/EBPalpha Sp1 Bach2 MIF-1 RFX1 NF-E2 p45 Epigenetics: SABiosciences Methyl-Profiler DNA Methylation qPCR Primer Assays for PROC: MePH03623-1A Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 2q13-q14 Ensembl cytogenetic band: 2q14.3 HGNC cytogenetic band: 2q13-q14 PROC 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 2 GeneLoc Exon Structure
GeneLoc location for GC02P128176: view genomic region
(about GC identifiers )
Start:
128,176,003 bp from pter
End:
128,186,822 bp from pter
Size:
10,820 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000002.11 NT_022135.16 Proteins for PROC gene
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene ,
Novus Biologicals , and/or
Sino Biological ,
Biochemical Assays by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 May 2010 and
Entrez Gene ,
Antibodies by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abnova ,
OriGene ,
Novus Biologicals , and/or
Epitomics )
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User Feedback UniProtKB/Swiss-Prot: PROC_HUMAN, P04070 (See
protein sequence )Recommended Name: Vitamin K-dependent protein C precursor Size : 461 amino acids; 52071 Da
Subunit : Synthesized as a single chain precursor, which is cleaved into a light chain and a heavy chain held togetherby a disulfide bond. The enzyme is then activated by thrombin, which cleaves a tetradecapeptide from the amino end of the heavy chain; this reaction, which occurs at the surface of endothelial cells, is strongly promoted by thrombomodulin
Miscellaneous : Calcium also binds, with stronger affinity to another site, beyond the GLA domain. This GLA-independentbinding site is necessary for the recognition of the thrombin-thrombomodulin complex
Sequence caution : Sequence=S76088; Type=Erroneous termination; Positions=151; Note=Translated as Cys;
PDB structures from and Proteopedia : 1AUT (3D)
 1LQV (3D)
 1PCU (3D)
 2PCT (3D)
 3F6U (3D)
 
Secondary accessions : Q15189 Q15190 Q16001 Q53S74 Q9UC55Post-translational modifications:
The vitamin K-dependent, enzymatic carboxylation of some Glu residues allows the modified protein to bind calcium1
Partial (70%) N-glycosylation of Asn-371 with an atypical N-X-C site produces a higher molecular weight form referred to as alpha. The lower molecular weight form, not glycosylated at Asn-371, is beta1
The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains1
REFSEQ proteins: NP_000303.1 ENSEMBL proteins: ENSP00000234071 ENSP00000386679 ENSP00000412697 ENSP00000409543 ENSP00000406295 ENSP00000391220 ENSP00000392606 ENSP00000402329 ENSP00000411241 ENSP00000384225 ENSP00000404030 Human Recombinant Proteins 3 Gene Ontology (GO) cellular component terms (GO ID links to tree view) :
About this table
PROC for ontologies About GeneDecksing Antibodies for PROC: Assays for PROC:
Protein
Domains/ Families for PROC gene(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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PROC for domains About GeneDecksing 5/13 InterPro domains/families (see all 13
):
Graphical View of Domain Structure for InterPro Entry P04070 ProtoNet protein and cluster: P04070
5 Blocks protein families : IPB000152 Aspartic acid and asparagine hydroxylation site IPB000294 Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain IPB001254 Serine protease IPB001314 Chymotrypsin serine protease family (S1) signature IPB002383 Coagulation factor GLA domain signature UniProtKB/Swiss-Prot: PROC_HUMAN, P04070 Similarity : Belongs to the peptidase S1 familySimilarity : Contains 2 EGF-like domainsSimilarity : Contains 1 Gla (gamma-carboxy-glutamate) domainSimilarity : Contains 1 peptidase S1 domain
Gene Function for PROC gene
(According to MGI May 08 2010, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Millipore ,
Abnova ,
siRNAs from
Applied Biosystems ,
Sigma-Aldrich , Clones from
Millipore ,
Sigma-Aldrich ,
OriGene ,
Sino Biological ,
Ontologies according to Gene Ontology Consortium 01 May 2010 via
Entrez Gene .)
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User Feedback UniProtKB/Swiss-Prot: PROC_HUMAN, P04070 Function : Protein C is a vitamin K-dependent serine protease that regulates blood coagulation by inactivating factorsVa and VIIIa in the presence of calcium ions and phospholipids Catalytic activity : Degradation of blood coagulation factors Va and VIIIaEnzyme Number (IUBMB): EC 3.4.21.69
Genatlas biochemistry entry for PROC :protein C,coagulation factor (FVa and FVIIIa inactivator),vitamin K-dependent 5 Gene Ontology (GO) molecular function terms (GO ID links to tree view) :
About this table
PROC for ontologies About GeneDecksing Animal Models: 12 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Proc) :
PROC for phenotypes About GeneDecksing Pathways & Interactions for PROC gene
(Pathways according to
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
Applied Biosystems GeneAssist ,
KEGG
and/or UniProtKB ,
(map by GeneGo ),
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 May 2010 via
Entrez Gene) .
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PROC for pathways About GeneDecksing 1 Millipore Pathway for PROC 2 Sigma-Aldrich "Your Favorite Gene" Pathways for PROC (Your Favorite Gene powered by Ingenuity) 3 GeneAssist Pathways for PROC 1 Kegg Pathway (Kegg details for PROC) : hsa04610 Complement and coagulation cascades
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PROC 5/25 Interacting proteins for PROC (ENSP00000234071 3 P04070 1 ) via UniProtKB, MINT, and/or STRING (see all 25
) About this table 4 Gene Ontology (GO) biological process terms (GO ID links to tree view) :
About this table
PROC for ontologies About GeneDecksing
Drugs & Compounds for PROC gene (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 )
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PROC for compounds About GeneDecksing Browse Tocris compounds for PROC 10/130 Novoseek chemical compound relationships for PROC gene (see all 130
)
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
gamma-carboxyglutamic acid
59.29
36
1498334 (6), 8180219 (4), 8505327 (3), 7999756 (3) (see all 20 )
fibrinogen
46.47
78
9175686 (2), 19121184 (2), 17184825 (2), 16446693 (2) (see all 68 )
delta(1)pyrroline-5-carboxylate
6.63
5
10220161 (2), 8479442 (1), 2188947 (1), 19027071 (1)
fibrinopeptide a
6.52
3
7516205 (2), 7603735 (1)
vitamin k
6.15
12
8684514 (1), 8329570 (1), 8148479 (1), 8104071 (1) (see all 12 )
procainamide
5.62
8
12804575 (8)
prinomastat
5.37
3
14515196 (3)
warfarin
5.32
16
6547348 (2), 3775760 (2), 19958090 (2), 12434119 (2) (see all 12 )
phospholipid
5.25
24
8505327 (4), 1387359 (4), 9078278 (3), 8679535 (3) (see all 11 )
carboxy
4.53
7
15939749 (5), 12853388 (1), 10496930 (1)
About this table
Transcripts for PROC gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 223 Homo sapiens; Apr 2 2010) 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
Millipore and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
microRNA from SABiosciences ,
Tagged/untagged cDNA clones from
OriGene ,
Primers from
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SABiosciences , Expression Assays from Applied Biosystems )About This Section
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User Feedback Assays: Applied Biosystems TaqMan® Gene Expression Assays: NM_000312 Clones: Origene GFP tagged cDNA clones in CMV expression vector: PROC Origene Myc/DDK tagged cDNA clones in CMV expression vector: PROC Origene untagged cDNA clones in CMV expression vector (see all 2 ): PROC
Primers: Origene genome-wide validated SYBR primer pairs: PROC SABiosciences RT2 qPCR Primer Assay for PROC: PPH07139A
REFSEQ mRNAs for PROC gene: NM_000312.3
Additional cDNA sequence: AK298280.1 BC034377.1 CR606412.1 K02059.1 S50739.1 S72338.1 X02750.1
6 DOTS entries : DT.312382 DT.99954045 DT.99960945 DT.100751492 DT.91756785 DT.91756787
24/34 AceView cDNA sequences (see all 34
):
BC034377 AW052154 CB113383 BM975043 CR606412 BU607676 AI671712 BI764225 BV199653 BX107014 CB145461 CB128895 AL531077 R29203 BF237847 CB145040 AA745883 BQ646591 BI762861 K02059 AL531076 AV684946 BI252272 X02750
highest scoring ESTs for PROC :AA745883 AI021885 AI349475 AL531076 AV656483 AW052154 BC034377 BF237847 BI252272 BI764225 Unigene Cluster for PROC:
Protein C (inactivator of coagulation factors Va and VIIIa) Hs.224698 [show with all ESTs ] Unigene Representative Sequence: X02750 GeneLoc Exon Structure 4 Alternative Splicing Database (ASD) splice patterns (SP) for PROC ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b SP1 :   -         -           -         SP2 :                             SP3 :                             SP4 :                   -   -   -      
About this scheme ECgene alternative splicing isoforms for PROC 13 Ensembl transcripts including schematic representations : ENST00000234071
ENST00000409048
ENST00000429925
ENST00000474030
ENST00000422777
ENST00000427769
ENST00000431364
ENST00000419985
ENST00000445407
ENST00000442644
ENST00000464089
ENST00000402125
ENST00000453608
Expression for PROC gene
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 223 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 ,
Primers from
OriGene and/or
SABiosciences
)
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User Feedback PROC expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for PROC 1 / 2 / 3
3 probe-sets matching PROC gene
Affymetrix probe-set
Array
GeneAnnot data
GeneNote data
GeneTide data
# genes
Sensitivity
Specificity
Correlation
Length
Gb_Accession
Consensus
Uniqueness
Score
Rank
39255_at2 , 3
U95-A
1
1.00
1.00
1.00
1.00
X02750
0.80
1.00
0.91
1
206259_at2 , 3
U133-A
1
1.00
1.00
--
--
NM_000312
0.60
1.00
0.82
1
206259_at2
U133Plus2
1
1.00
1.00
--
--
--
--
--
--
--
About this table
PROC for expression About GeneDecksing Data from
Genenote  
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: TAACAAGCAC SOURCE GeneReport for Unigene cluster: Hs.224698 Expression variation in blood from EXPOLDB for PROC
UniProtKB/Swiss-Prot: PROC_HUMAN, P04070 Tissue specificity : Plasma; synthesized in the liver
Primers: Origene genome-wide validated SYBR primer pairs: PROC SABiosciences RT2 qPCR Primer Assay for PROC: PPH07139A
Orthologs for PROC gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI May 08 2010,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for PROC gene from 5/9 species (see all 9
)
About this table Species with no ortholog for PROC ENSEMBL Gene Tree for PROC Paralogs for PROC gene (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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User Feedback Paralogs for PROC gene C1S 2 PAMR1 2 PROZ 2 C1R 2 C1RL 2 F9 2 MASP1 2 F10 2 F2 2 HPR 2 F7 2 HP 2 MASP2 2
PROC for paralogs About GeneDecksing
Genomic Variants for PROC gene (SNPs according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for PROC (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for PROC: --
Disorders & Mutations for PROC gene
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
LSDB, HGMD, GAD ,
HuGE Navigator ,
BCGD,
and/or TGDB .)
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PROC for disorders About GeneDecksing
OMIM: 612283 disorders : 176860 612304 UniProtKB/Swiss-Prot: PROC_HUMAN, P04070
Defects in PROC are the cause of protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]. ADPROCD is a cause of hereditary thrombophilia, a hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. However, many adults with heterozygous disease may be asymptomatic. Individuals with decreased amounts of protein C are classically referred to as having type I protein C deficiency and those with normal amounts of a functionally defective protein as having type II deficiency Defects in PROC are the cause of protein C deficiency autosomal recessive (ARPROCD) [MIM:612304]. ARPROCD results in a thrombotic condition that can manifest as a severe neonatal disorder or as a milder disorder with late-onset thrombophilia. The severe form leads to neonatal death through massive neonatal venous thrombosis. Often associated with ecchymotic skin lesions which can turn necrotic called purpura fulminans, this disorder is very rare
10/235 Novoseek disease relationships for PROC gene (see all 235
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
pc deficiency
100.00
58
11336597 (6), 11302483 (4), 8704244 (3), 9052918 (2) (see all 40 )
protein c deficiencies
100.00
63
10942114 (4), 8972002 (3), 9788727 (2), 8607097 (2) (see all 53 )
disease; lyme
60.87
56
8039891 (4), 16299277 (3), 12853388 (3), 10967255 (3) (see all 35 )
activated protein c resistance
39.82
24
14587054 (6), 10195932 (5), 16547717 (3), 17135722 (2) (see all 10 )
thrombophilia
33.62
34
17804900 (4), 15199492 (2), 9241707 (1), 9241706 (1) (see all 30 )
fulminans; purpura
33.24
19
7841324 (2), 7841323 (2), 12761614 (2), 11336597 (2) (see all 15 )
thrombosis venous
27.68
51
11302483 (4), 19535131 (3), 14567090 (3), 8400292 (2) (see all 38 )
spirochete diseases
22.28
15
16299277 (2), 11230121 (2), 8200524 (1), 18479884 (1) (see all 13 )
neonatal purpura
21.63
8
7841323 (2), 8607097 (1), 8115990 (1), 7841324 (1) (see all 7 )
lupus anticoagulant
20.90
22
14587054 (5), 8735139 (2), 19565645 (2), 19029633 (2) (see all 13 )
About this table Genatlas disease: PROC thrombosis,recurrent (pro-C type I and type II deficiency) Human Gene Mutation Database : PROC Genetic Association Database: PROC Human Genome Epidemiology Navigator: PROC (42 documents)
Medical News for PROC gene (Possibly Related Articles in
Doctor's Guide )
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Publications for PROC gene (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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User Feedback 10/538 PubMed articles for PROC gene (see all 538
): Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene. (PubMed id 2437584) 1, 2, 3 , 4 Romeo G....Peschle C. (1987) The nucleotide sequence of the gene for human protein C. (PubMed id 2991887) 2, 3 , 4 Foster D.C.... Davie E.W. (1985) R147W mutation of PROC gene is common in venous thrombotic patients in Taiwanese Chinese. (PubMed id 15114590) 1, 3 , 6 Tsay W. and Shen M.C. (2004) Three novel mutations in the protein C (PROC) gene causing venous thrombosis. (PubMed id 7605880) 1, 3 , 4 Millar D.S.... Cooper D.N. (1995) A homozygous deletion/insertion mutation in the protein C (PROC) gene causing neonatal Purpura fulminans: prenatal diagnosis in an at-risk pregnancy. (PubMed id 7841323) 1, 3 , 4 Millar D.S.... Cooper D.N. (1994) A novel homozygous missense mutation (Val 325-->Ala) in the protein C gene causing neonatal purpura fulminans. (PubMed id 7841324) 1, 3 , 4 Witt I.... Schenck W. (1994) Splice site mutation in the human protein C gene associated with venous thrombosis: demonstration of exon skipping by ectopic transcript analysis. (PubMed id 8400292) 1, 3 , 6 Lind B....Thorsen S. (1993) A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis. (PubMed id 1511988) 1, 3 , 4 Grundy C.B.... Cooper D.N. (1992) Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis. (PubMed id 1511989) 1, 3 , 4 Grundy C.B.... Cooper D.N. (1992) The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity and founder effects. (PubMed id 1868249) 1, 3 , 4 Reitsma P.H.... Bertina R.M. (1991)
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Mammary Transgene Database entry for PROCMore genetic and clinical information Wikipedia http://en.wikipedia.org/wiki/Protein_C GeneReviews http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PROC SeattleSNPs http://pga.gs.washington.edu/data/proc/
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User Feedback Patent Information for PROC gene: Search GeneIP for patents involving PROC GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search Services for PROC gene (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Novus Biologicals ,Epitomics , Sigma-Aldrich , R&D Systems , SABiosciences , Millipore , Abnova , Clones available from OriGene , Sigma-Aldrich , Sino Biological , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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