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Aliases for CR1 Gene

Aliases for CR1 Gene

  • Complement C3b/C4b Receptor 1 (Knops Blood Group) 2 3 5
  • Complement Component (3b/4b) Receptor 1 (Knops Blood Group) 2 3
  • C3b/C4b Receptor 3 4
  • CD35 Antigen 3 4
  • C3BR 3 4
  • Complement Component (3b/4b) Receptor 1, Including Knops Blood Group System 2
  • Complement Component 3b/4b Receptor 1 (Knops Blood Group) 2
  • Complement Receptor Type 1 3
  • Knops Blood Group Antigen 3
  • Complement Receptor 1 3
  • C3-Binding Protein 3
  • C4BR 3
  • CD35 3
  • KN 3

External Ids for CR1 Gene

Previous GeneCards Identifiers for CR1 Gene

  • GC01P206329
  • GC01P203379
  • GC01P204312
  • GC01P204753
  • GC01P204057
  • GC01P205736
  • GC01P207669
  • GC01P178362

Summaries for CR1 Gene

Entrez Gene Summary for CR1 Gene

  • This gene is a member of the receptors of complement activation (RCA) family and is located in the 'cluster RCA' region of chromosome 1. The gene encodes a monomeric single-pass type I membrane glycoprotein found on erythrocytes, leukocytes, glomerular podocytes, and splenic follicular dendritic cells. The Knops blood group system is a system of antigens located on this protein. The protein mediates cellular binding to particles and immune complexes that have activated complement. Decreases in expression of this protein and/or mutations in its gene have been associated with gallbladder carcinomas, mesangiocapillary glomerulonephritis, systemic lupus erythematosus and sarcoidosis. Mutations in this gene have also been associated with a reduction in Plasmodium falciparum rosetting, conferring protection against severe malaria. Alternate allele-specific splice variants, encoding different isoforms, have been characterized. Additional allele specific isoforms, including a secreted form, have been described but have not been fully characterized. [provided by RefSeq, Jul 2008]

GeneCards Summary for CR1 Gene

CR1 (Complement C3b/C4b Receptor 1 (Knops Blood Group)) is a Protein Coding gene. Diseases associated with CR1 include Malaria and Plasmodium Falciparum Malaria. Among its related pathways are Complement and coagulation cascades and Legionellosis. Gene Ontology (GO) annotations related to this gene include complement component C3b binding and complement component C4b receptor activity. An important paralog of this gene is CSMD3.

UniProtKB/Swiss-Prot for CR1 Gene

  • Mediates cellular binding of particles and immune complexes that have activated complement.

  • (Microbial infection) Acts as a receptor for Epstein-Barr virus.

Gene Wiki entry for CR1 Gene

Additional gene information for CR1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CR1 Gene

Genomics for CR1 Gene

GeneHancer (GH) Regulatory Elements for CR1 Gene

Promoters and enhancers for CR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J207495 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 650.7 +0.2 221 1.5 CTCF PKNOX1 L3MBTL2 BACH1 ZIC2 CTBP1 ZNF585B ZSCAN5C IKZF1 ZBTB33 CR1 GC01P207523 GC01M207468
GH01J207496 Enhancer 0.2 ENCODE 650.7 -0.6 -608 0.1 CR1 GC01P207462 GC01M207468
GH01J207048 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 10.5 -443.2 -443185 9.7 CLOCK ZFP64 DMAP1 YBX1 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 PFKFB2 YOD1 EIF2D CDCA4P4 MAPKAPK2 C1orf116 CR1 RPL7AP20 CD46
GH01J207407 Enhancer 1 FANTOM5 Ensembl 20.7 -88.2 -88173 0.7 HDAC1 PKNOX1 BATF IRF4 RAD21 YY1 TCF12 EGR1 RCOR1 ETV6 CR1 CD55 CR2 C4BPB C4BPA CD46 YOD1 ENSG00000283044 LOC105372881
GH01J207816 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE dbSUPER 8.2 +326.8 326783 12.5 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B NEUROD1 SIN3A DMAP1 IRF4 CD46 CDCA4P4 MIR29B2CHG CD34 CR1 PLXNA2 CR1L PIR33548 LOC148696 GC01P207829
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CR1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CR1 gene promoter:
  • c-Rel
  • c-Myb
  • GR
  • GR-alpha
  • GR-beta

Genomic Locations for CR1 Gene

Genomic Locations for CR1 Gene
chr1:207,496,128-207,641,765
(GRCh38/hg38)
Size:
145,638 bases
Orientation:
Plus strand
chr1:207,669,473-207,815,110
(GRCh37/hg19)
Size:
145,638 bases
Orientation:
Plus strand

Genomic View for CR1 Gene

Genes around CR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CR1 Gene

Proteins for CR1 Gene

  • Protein details for CR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P17927-CR1_HUMAN
    Recommended name:
    Complement receptor type 1
    Protein Accession:
    P17927
    Secondary Accessions:
    • Q16744
    • Q16745
    • Q5SR43
    • Q5SR45
    • Q9UQV2

    Protein attributes for CR1 Gene

    Size:
    2039 amino acids
    Molecular mass:
    223663 Da
    Quaternary structure:
    • Monomer.
    • (Microbial infection) Interacts with Epstein-Barr virus gp350.

    Three dimensional structures from OCA and Proteopedia for CR1 Gene

neXtProt entry for CR1 Gene

Post-translational modifications for CR1 Gene

  • Glycosylation at posLast=19081908, Asn1763, Asn1605, Asn1540, posLast=15341534, posLast=15041504, posLast=14811481, Asn1310, Asn1152, posLast=10281028, posLast=959959, Asn897, posLast=860860, Asn702, Asn578, posLast=509509, posLast=447447, Asn410, Asn252, posLast=156156, and Asn56
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CR1 Gene

Domains & Families for CR1 Gene

Gene Families for CR1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Blood group antigen proteins
  • CD markers
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for CR1 Gene

Graphical View of Domain Structure for InterPro Entry

P17927

UniProtKB/Swiss-Prot:

CR1_HUMAN :
  • Belongs to the receptors of complement activation (RCA) family.
Family:
  • Belongs to the receptors of complement activation (RCA) family.
genes like me logo Genes that share domains with CR1: view

Function for CR1 Gene

Molecular function for CR1 Gene

UniProtKB/Swiss-Prot Function:
Mediates cellular binding of particles and immune complexes that have activated complement.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Acts as a receptor for Epstein-Barr virus.
GENATLAS Biochemistry:
complement component (3b/4b) receptor 1 (see RCA@)

Phenotypes From GWAS Catalog for CR1 Gene

Gene Ontology (GO) - Molecular Function for CR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001618 virus receptor activity IEA --
GO:0001851 complement component C3b binding IDA 2972794
GO:0001855 complement component C4b binding IDA 2972794
GO:0001861 complement component C4b receptor activity IDA 2972794
GO:0004877 complement component C3b receptor activity IDA 2972794
genes like me logo Genes that share ontologies with CR1: view
genes like me logo Genes that share phenotypes with CR1: view

Animal Model Products

miRNA for CR1 Gene

miRTarBase miRNAs that target CR1

Clone Products

  • Addgene plasmids for CR1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CR1 Gene

Localization for CR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CR1 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CR1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 2
nucleus 2
lysosome 2
mitochondrion 1
cytosol 1

Gene Ontology (GO) - Cellular Components for CR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 6910481
GO:0009986 cell surface IDA 2972794
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CR1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CR1 Gene

Pathways & Interactions for CR1 Gene

genes like me logo Genes that share pathways with CR1: view

Gene Ontology (GO) - Biological Process for CR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0002430 complement receptor mediated signaling pathway IEA --
GO:0006958 complement activation, classical pathway IEA --
GO:0016032 viral process IEA --
GO:0030449 regulation of complement activation TAS --
genes like me logo Genes that share ontologies with CR1: view

No data available for SIGNOR curated interactions for CR1 Gene

Drugs & Compounds for CR1 Gene

(22) Drugs for CR1 Gene - From: PharmGKB, ClinicalTrials, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Eculizumab Approved, Investigational Pharma 0
Staurosporine Experimental Pharma Neutral, Allosteric regulator, Positive Protein kinase inhibitor,potent and cell permeable 51
4'-N-benzoylstaurosporine Pharma 31
Protein Kinase Inhibitors Pharma 3820

(23) Additional Compounds for CR1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CR1: view

Transcripts for CR1 Gene

mRNA/cDNA for CR1 Gene

Unigene Clusters for CR1 Gene

Complement component (3b/4b) receptor 1 (Knops blood group):
Representative Sequences:

Clone Products

  • Addgene plasmids for CR1

Alternative Splicing Database (ASD) splice patterns (SP) for CR1 Gene

No ASD Table

Relevant External Links for CR1 Gene

GeneLoc Exon Structure for
CR1
ECgene alternative splicing isoforms for
CR1

Expression for CR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CR1 Gene

mRNA differential expression in normal tissues according to GTEx for CR1 Gene

This gene is overexpressed in Whole Blood (x31.7) and Spleen (x7.4).

Protein differential expression in normal tissues from HIPED for CR1 Gene

This gene is overexpressed in Urine (50.9) and Neutrophil (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CR1 Gene



Protein tissue co-expression partners for CR1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CR1 Gene:

CR1

SOURCE GeneReport for Unigene cluster for CR1 Gene:

Hs.334019

mRNA Expression by UniProt/SwissProt for CR1 Gene:

P17927-CR1_HUMAN
Tissue specificity: Present on erythrocytes, leukocytes, glomerular podocytes, and splenic follicular dendritic cells.

Evidence on tissue expression from TISSUES for CR1 Gene

  • Blood(3.4)
  • Spleen(3.1)
  • Lymph node(2.8)
  • Bone marrow(2.6)
  • Kidney(2.5)
  • Heart(2.2)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with CR1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CR1 Gene

Orthologs for CR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CR1 34 33
  • 97.13 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LOC102157092 33
  • 69.17 (n)
-- 34
  • 52 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Cr1l 34
  • 57 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 45 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 44 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 32 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii ntd5 34
  • 21 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG10186 35
  • 26 (a)
fw 34
  • 17 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea T07H6.5 35
  • 25 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 9 (a)
OneToMany
Species where no ortholog for CR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CR1 Gene

ENSEMBL:
Gene Tree for CR1 (if available)
TreeFam:
Gene Tree for CR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CR1: view image

Paralogs for CR1 Gene

Paralogs for CR1 Gene

(6) SIMAP similar genes for CR1 Gene using alignment to 22 proteins:

  • CR1_HUMAN
  • E9PDY4_HUMAN
  • E9PQN4_HUMAN
  • H0YE06_HUMAN
  • Q5SBJ5_HUMAN
  • Q5SBJ6_HUMAN
  • Q5SBJ7_HUMAN
  • Q5SBJ8_HUMAN
  • Q5SBJ9_HUMAN
  • Q5SBK0_HUMAN
  • Q5SBK1_HUMAN
  • Q5SBK2_HUMAN
  • Q5SBK3_HUMAN
  • Q5SBK4_HUMAN
  • Q5SBK5_HUMAN
  • Q5SBK6_HUMAN
  • Q5SR44_HUMAN
  • Q9HB98_HUMAN
  • Q9HB99_HUMAN
  • Q9HC54_HUMAN
  • Q9HC55_HUMAN
  • V6EYC3_HUMAN

Pseudogenes.org Pseudogenes for CR1 Gene

genes like me logo Genes that share paralogs with CR1: view

Variants for CR1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CR1 Gene

CR1_HUMAN-P17927
CR1 contains a system of antigens called the Knops blood group system. Polymorphisms within this system are involved in malarial rosetting, a process associated with cerebral malaria, the major cause of mortality in Plasmodium falciparum malaria. Common Knops system antigens include McCoy (McC) and Sl(a)/Vil (Kn4, or Swain-Langley; Vil or Villien). Sl(a-) phenotype is more common in persons of African descent and may protect against fatal malaria.
CR1_HUMAN-P17927
Other polymorphic forms of CR1 contain 23, 37 or 44 Sushi (CCP/SCR) domains instead of the 30 Sushi (CCP/SCR) domains. The most frequent alleles are the F allotype (shown here) and the S allotype (37 repeat Sushi domains). The gene frequencies of the F allotype and S allotype are 0.87 and 0.11 in Caucasians, 0.82 and 0.11 in African Americans, 0.89 and 0.11 in Mexicans.
CR1_HUMAN-P17927
Genetic variations in CR1 resulting in CR1 deficiency are involved in protection against severe malaria [MIM:611162]. Parasitized red blood cells (RBCs) from children suffering from severe malaria often adhere to complement receptor 1 (CR1) on uninfected RBCs to form clumps of cells known as rosettes. CR1-deficient red blood cells show greatly reduced rosetting and CR1 deficiency occurs in healthy individuals from malaria-endemic regions.

Sequence variations from dbSNP and Humsavar for CR1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs115988205 likely-benign, not provided 207,607,240(+) C/A intron_variant
rs1000004285 -- 207,635,244(+) A/G intron_variant
rs1000049986 -- 207,631,818(+) A/G intron_variant
rs1000095350 -- 207,587,194(+) AAAAAAAA/AAAAAAAAA intron_variant
rs1000141437 -- 207,632,115(+) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CR1 Gene

Variant ID Type Subtype PubMed ID
dgv139e212 CNV gain 25503493
dgv140e212 CNV loss 25503493
dgv141e212 CNV gain 25503493
dgv14n73 CNV deletion 24416366
dgv257n106 CNV deletion 24896259
dgv5n47 CNV loss 21111241
dgv6n47 CNV loss 21111241
dgv793n54 CNV loss 21841781
dgv794n54 CNV loss 21841781
dgv94e199 CNV deletion 23128226
esv26263 CNV gain+loss 19812545
esv2675458 CNV deletion 23128226
esv2722106 CNV deletion 23290073
esv2722117 CNV deletion 23290073
esv2758993 CNV gain+loss 17122850
esv3052679 CNV deletion 24192839
esv3063790 CNV deletion 24192839
esv33009 CNV gain+loss 17666407
esv3545666 CNV deletion 23714750
esv3578396 CNV loss 25503493
esv3588674 CNV gain 21293372
esv3891082 CNV loss 25118596
nsv1069245 CNV deletion 25765185
nsv1112563 CNV deletion 24896259
nsv1112564 CNV deletion 24896259
nsv1141905 OTHER inversion 24896259
nsv1142790 CNV deletion 24896259
nsv124 CNV deletion 15895083
nsv4232 CNV deletion 18451855
nsv436034 CNV insertion 17901297
nsv471426 CNV gain 19718026
nsv508690 CNV deletion 20534489
nsv514918 CNV gain 21397061
nsv514919 CNV gain+loss 21397061
nsv549086 CNV loss 21841781
nsv549090 CNV loss 21841781
nsv821188 CNV deletion 20802225
nsv826476 CNV loss 20364138
nsv826487 CNV gain 20364138
nsv8724 CNV gain+loss 18304495
nsv946621 CNV duplication 23825009
nsv946622 CNV duplication 23825009
nsv946623 CNV duplication 23825009

Variation tolerance for CR1 Gene

Residual Variation Intolerance Score: 97.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.67; 93.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CR1 Gene

Human Gene Mutation Database (HGMD)
CR1
Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group System
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CR1

SNP Genotyping and Copy Number Assay Products

Disorders for CR1 Gene

MalaCards: The human disease database

(32) MalaCards diseases for CR1 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
malaria
  • malaria, susceptibility to
plasmodium falciparum malaria
  • falciparum malaria
follicular dendritic cell sarcoma
  • follicular dendritic cell tumour
histiocytic and dendritic cell cancer
  • histiocytic and dendritic cell
glomerulonephritis
  • bright's disease
- elite association - COSMIC cancer census association via MalaCards
Search CR1 in MalaCards View complete list of genes associated with diseases

Genatlas disease for CR1 Gene

lupus systemic syndrome

Additional Disease Information for CR1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CR1: view

No data available for UniProtKB/Swiss-Prot for CR1 Gene

Publications for CR1 Gene

  1. CR1 levels and gene polymorphisms exhibit differential association with falciparum malaria in regions of varying disease endemicity. (PMID: 19480840) Sinha S … Habib S (Human immunology 2009) 3 22 44 58
  2. Polymorphisms of complement receptor 1 and interleukin-10 genes and systemic lupus erythematosus: a meta-analysis. (PMID: 16133175) Nath SK … Lee YH (Human genetics 2005) 3 22 44 58
  3. A complement receptor-1 polymorphism with high frequency in malaria endemic regions of Asia but not Africa. (PMID: 15578041) Thomas BN … Moulds JM (Genes and immunity 2005) 3 22 44 58
  4. Quantitative polymorphism of complement receptor type 1 (CR1) in patients undergoing haemodialysis. (PMID: 15069174) Tamano M … Tomino Y (Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2004) 3 22 44 58
  5. Association of complement receptor 1 (CR1, CD35, C3b/C4b receptor) density polymorphism with glomerulonephritis in Indian subjects. (PMID: 15072851) Katyal M … Das N (Molecular immunology 2004) 3 22 44 58

Products for CR1 Gene

Sources for CR1 Gene

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