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Aliases for CYC1 Gene

Aliases for CYC1 Gene

  • Cytochrome C1 2 3 5
  • Ubiquinol-Cytochrome-C Reductase Complex Cytochrome C1 Subunit 3 4
  • Cytochrome B-C1 Complex Subunit 4 3 4
  • Complex III Subunit IV 3 4
  • Complex III Subunit 4 3 4
  • Cytochrome C-1 3 4
  • Cytochrome C1, Heme Protein, Mitochondrial 3
  • MC3DN6 3
  • UQCR4 3

External Ids for CYC1 Gene

Previous GeneCards Identifiers for CYC1 Gene

  • GC08U990014
  • GC08M145286
  • GC08P144925
  • GC08P145255
  • GC08P145221
  • GC08P145149
  • GC08P140425

Summaries for CYC1 Gene

Entrez Gene Summary for CYC1 Gene

  • This gene encodes a subunit of the cytochrome bc1 complex, which plays an important role in the mitochondrial respiratory chain by transferring electrons from the Rieske iron-sulfur protein to cytochrome c. Mutations in this gene may cause mitochondrial complex III deficiency, nuclear type 6. [provided by RefSeq, Dec 2013]

GeneCards Summary for CYC1 Gene

CYC1 (Cytochrome C1) is a Protein Coding gene. Diseases associated with CYC1 include Mitochondrial Complex Iii Deficiency, Nuclear Type 6 and Mitochondrial Complex Iii Deficiency. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Metabolism of proteins. GO annotations related to this gene include iron ion binding and electron carrier activity.

UniProtKB/Swiss-Prot for CYC1 Gene

  • This is the heme-containing component of the cytochrome b-c1 complex, which accepts electrons from Rieske protein and transfers electrons to cytochrome c in the mitochondrial respiratory chain.

Gene Wiki entry for CYC1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYC1 Gene

Genomics for CYC1 Gene

Regulatory Elements for CYC1 Gene

Enhancers for CYC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G144073 1.6 FANTOM5 Ensembl ENCODE 12.2 -20.6 -20631 1.2 HDGF PKNOX1 ATF1 ARNT TCF12 ZNF766 ELK1 KLF13 ZNF491 ZNF592 WDR97 ZNF251 SPATC1 CYC1 SHARPIN MAF1 PARP10 ZNF623 ZNF250 GRINA
GH08G143968 1.7 Ensembl ENCODE dbSUPER 11.2 -120.8 -120788 11.0 CREB3L1 AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D PLEC MAF1 WDR97 MIR661 SPATC1 PARP10 EXOSC4 ENSG00000255224 GPAA1 CYC1
GH08G144062 1.4 FANTOM5 ENCODE dbSUPER 12.2 -31.5 -31526 2.3 ELF3 CTCF TFAP4 ZNF792 SAP130 ARID4B MAX RAD21 YY1 HIC1 WDR97 ENSG00000255224 SPATC1 CYC1 SHARPIN MAF1 PARP10 PLEC OPLAH MIR6846
GH08G144046 1.3 Ensembl ENCODE dbSUPER 11.8 -45.0 -45046 6.7 AGO1 ARID4B ZNF76 PCBP1 PAF1 ZNF263 REST KAT8 NFIC GLIS1 ZNF251 LRRC14 ZNF517 ZNF250 LOC105375803 TMED10P1 ENSG00000255224 ENSG00000255164 GPAA1 CYC1
GH08G144002 1.1 Ensembl ENCODE 11.3 -90.5 -90524 3.5 HDAC1 PKNOX1 FOXA2 THRB RAD21 YY1 SCRT2 RCOR1 USF2 CEBPB PLEC WDR97 EXOSC4 ENSG00000255224 MIR661 GPAA1 CYC1 MAF1 SHARPIN NRBP2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CYC1 on UCSC Golden Path with GeneCards custom track

Promoters for CYC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000232205 73 1801 HDGF PKNOX1 CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9

Genomic Location for CYC1 Gene

Chromosome:
8
Start:
144,095,027 bp from pter
End:
144,097,527 bp from pter
Size:
2,501 bases
Orientation:
Plus strand

Genomic View for CYC1 Gene

Genes around CYC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYC1 Gene

Proteins for CYC1 Gene

  • Protein details for CYC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08574-CY1_HUMAN
    Recommended name:
    Cytochrome c1, heme protein, mitochondrial
    Protein Accession:
    P08574
    Secondary Accessions:
    • Q5U062
    • Q6FHS7

    Protein attributes for CYC1 Gene

    Size:
    325 amino acids
    Molecular mass:
    35422 Da
    Quaternary structure:
    • The bc1 complex contains 11 subunits: 3 respiratory subunits (cytochrome b, cytochrome c1 and Rieske/UQCRFS1), 2 core proteins (UQCRC1/QCR1 and UQCRC2/QCR2) and 6 low-molecular weight proteins (UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9, UQCR11/QCR10 and a cleavage product of Rieske/UQCRFS1).

neXtProt entry for CYC1 Gene

Post-translational modifications for CYC1 Gene

Other Protein References for CYC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CYC1 Gene

Domains & Families for CYC1 Gene

Protein Domains for CYC1 Gene

Suggested Antigen Peptide Sequences for CYC1 Gene

Graphical View of Domain Structure for InterPro Entry

P08574

UniProtKB/Swiss-Prot:

CY1_HUMAN :
  • Belongs to the cytochrome c family.
Family:
  • Belongs to the cytochrome c family.
genes like me logo Genes that share domains with CYC1: view

Function for CYC1 Gene

Molecular function for CYC1 Gene

GENATLAS Biochemistry:
cytochrome c-1,subunit of the mitochondrial bc1 complex III of mitochondrial respiratory chain,oxidative phosphorylation(OXPHOS)
UniProtKB/Swiss-Prot Function:
This is the heme-containing component of the cytochrome b-c1 complex, which accepts electrons from Rieske protein and transfers electrons to cytochrome c in the mitochondrial respiratory chain.

Gene Ontology (GO) - Molecular Function for CYC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009055 electron carrier activity IEA --
GO:0020037 heme binding IEA --
GO:0045153 electron transporter, transferring electrons within CoQH2-cytochrome c reductase complex activity IBA --
GO:0045155 electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity TAS 2536365
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CYC1: view
genes like me logo Genes that share phenotypes with CYC1: view

Human Phenotype Ontology for CYC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for CYC1 Gene

miRTarBase miRNAs that target CYC1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CYC1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CYC1 Gene

Localization for CYC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYC1 Gene

Mitochondrion inner membrane; Single-pass membrane protein; Intermembrane side.

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 CYC1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
plasma membrane 1
extracellular 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for CYC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005739 mitochondrion TAS,IDA 20833797
GO:0005743 mitochondrial inner membrane TAS --
GO:0005750 mitochondrial respiratory chain complex III IBA --
GO:0016020 membrane IDA,IEA 19946888
genes like me logo Genes that share ontologies with CYC1: view

Pathways & Interactions for CYC1 Gene

genes like me logo Genes that share pathways with CYC1: view

Gene Ontology (GO) - Biological Process for CYC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006122 mitochondrial electron transport, ubiquinol to cytochrome c TAS --
GO:0033762 response to glucagon IEA --
GO:0042776 mitochondrial ATP synthesis coupled proton transport IBA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with CYC1: view

No data available for SIGNOR curated interactions for CYC1 Gene

Drugs & Compounds for CYC1 Gene

(19) Drugs for CYC1 Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ubiquinone-2 Experimental Pharma Target 0
(5S)-3-ANILINO-5-(2,4-DIFLUOROPHENYL)-5-METHYL-1,3-OXAZOLIDINE-2,4-DIONE Experimental Pharma Target 0
2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol Experimental Pharma Target 0
2-NONYL-4-HYDROXYQUINOLINE N-OXIDE Experimental Pharma Target 0
5-HEPTYL-6-HYDROXY-1,3-BENZOTHIAZOLE-4,7-DIONE Experimental Pharma Target 0

(8) Additional Compounds for CYC1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
QH2
  • Coenzymes QH2
  • CoQH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9

(1) ApexBio Compounds for CYC1 Gene

Compound Action Cas Number
Cytochrome c - pigeon (88-104) Triggers T Cell response 86579-06-8
genes like me logo Genes that share compounds with CYC1: view

Drug Products

Transcripts for CYC1 Gene

Unigene Clusters for CYC1 Gene

Cytochrome c-1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CYC1

Alternative Splicing Database (ASD) splice patterns (SP) for CYC1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7
SP1:
SP2: -
SP3: -
SP4:

Relevant External Links for CYC1 Gene

GeneLoc Exon Structure for
CYC1
ECgene alternative splicing isoforms for
CYC1

Expression for CYC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CYC1 Gene

mRNA differential expression in normal tissues according to GTEx for CYC1 Gene

This gene is overexpressed in Heart - Left Ventricle (x4.8).

Protein differential expression in normal tissues from HIPED for CYC1 Gene

This gene is overexpressed in Heart (12.1), Brain (8.2), and Nasal epithelium (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CYC1 Gene



Protein tissue co-expression partners for CYC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CYC1 Gene:

CYC1

SOURCE GeneReport for Unigene cluster for CYC1 Gene:

Hs.289271

Evidence on tissue expression from TISSUES for CYC1 Gene

  • Lung(4.8)
  • Skin(4.8)
  • Nervous system(4.8)
  • Liver(4.6)
  • Heart(3.8)
  • Muscle(3.8)
  • Pancreas(3.5)
  • Intestine(3.1)
  • Stomach(2.8)
  • Eye(2.5)
  • Kidney(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CYC1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • larynx
  • mouth
  • neck
  • nose
  • skull
  • tongue
  • vocal cord
Thorax:
  • heart
  • heart valve
  • lung
Abdomen:
  • abdominal wall
  • adrenal gland
  • biliary tract
  • gallbladder
  • kidney
  • liver
  • pancreas
Pelvis:
  • testicle
Limb:
  • arm
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with CYC1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for CYC1 Gene

Orthologs for CYC1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CYC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CYC1 34 35
  • 99.38 (n)
cow
(Bos Taurus)
Mammalia CYC1 34 35
  • 90.56 (n)
dog
(Canis familiaris)
Mammalia CYC1 34 35
  • 89.33 (n)
mouse
(Mus musculus)
Mammalia Cyc1 34 16 35
  • 87.59 (n)
rat
(Rattus norvegicus)
Mammalia Cyc1 34
  • 87.35 (n)
oppossum
(Monodelphis domestica)
Mammalia CYC1 35
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CYC1 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75973 34 34
  • 70.76 (n)
African clawed frog
(Xenopus laevis)
Amphibia cyc1-prov 34
zebrafish
(Danio rerio)
Actinopterygii cyc1 34 35
  • 67.86 (n)
srnyz104 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8431 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006936 34
  • 65.16 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4769 36 34 35
  • 61.9 (n)
CG14508 36 35
  • 59 (a)
worm
(Caenorhabditis elegans)
Secernentea cyc-1 34 35
  • 56.46 (n)
C54G4.8 36
  • 49 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR208W 34
  • 61.77 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F16555g 34
  • 56.73 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CYT1 34 35 37
  • 56.6 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G40810 34
  • 57.64 (n)
rice
(Oryza sativa)
Liliopsida Os01g0935700 34
  • 60.46 (n)
Os.6336 34
barley
(Hordeum vulgare)
Liliopsida Hv.526 34
wheat
(Triticum aestivum)
Liliopsida Ta.28376 34
corn
(Zea mays)
Liliopsida Zm.788 34
bread mold
(Neurospora crassa)
Ascomycetes NCU09816 34
  • 61.65 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cyt1 34
  • 58.5 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 50 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4648 34
Species where no ortholog for CYC1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for CYC1 Gene

ENSEMBL:
Gene Tree for CYC1 (if available)
TreeFam:
Gene Tree for CYC1 (if available)

Paralogs for CYC1 Gene

No data available for Paralogs for CYC1 Gene

Variants for CYC1 Gene

Sequence variations from dbSNP and Humsavar for CYC1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs587777041 Pathogenic, Mitochondrial complex III deficiency, nuclear 6 (MC3DN6) [MIM:615453] 144,095,991(+) CCGTG(G/T)TCTCA reference, missense
rs587777042 Pathogenic, Mitochondrial complex III deficiency, nuclear 6 (MC3DN6) [MIM:615453] 144,096,615(+) CCCTG(C/T)TCACG reference, missense
rs144257411 Likely benign 144,095,930(+) GGCCA(C/T)GGCTC reference, missense
rs145475815 Uncertain significance 144,096,585(+) CTAGG(C/T)ATGGT reference, missense
rs1000356964 -- 144,094,113(+) TCCGT(C/T)TGTCA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for CYC1 Gene

Variant ID Type Subtype PubMed ID
dgv12431n54 CNV loss 21841781
dgv12433n54 CNV gain 21841781
dgv906n27 CNV loss 19166990
esv2738050 CNV deletion 23290073
esv2759651 CNV gain 17122850
esv29971 CNV loss 17803354
nsv1025071 CNV gain 25217958
nsv428208 CNV gain 18775914
nsv466014 CNV loss 19166990
nsv470249 CNV loss 18288195
nsv470250 CNV gain 18288195
nsv515809 CNV gain+loss 19592680
nsv612907 CNV gain+loss 21841781
nsv612914 CNV loss 21841781
nsv612915 CNV loss 21841781
nsv950015 CNV deletion 24416366

Variation tolerance for CYC1 Gene

Residual Variation Intolerance Score: 37.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.85; 17.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CYC1 Gene

Human Gene Mutation Database (HGMD)
CYC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYC1 Gene

Disorders for CYC1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CYC1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex iii deficiency, nuclear type 6
  • mitochondrial complex iii deficiency nuclear type 6
mitochondrial complex iii deficiency
  • complex 3 mitochondrial respiratory chain deficiency
mitochondrial respiratory chain complex iii deficiency, cyc1-related
  • mitochondrial complex iii deficiency, nuclear type 6
contagious pustular dermatitis
  • ecthyma contagiosum
- elite association - COSMIC cancer census association via MalaCards
Search CYC1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CY1_HUMAN
  • Mitochondrial complex III deficiency, nuclear 6 (MC3DN6) [MIM:615453]: An autosomal recessive disorder caused by mitochondrial dysfunction. It is characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection. Laboratory studies show decreased activity of mitochondrial complex III. Psychomotor development is normal. {ECO:0000269 PubMed:23910460}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CYC1

Genetic Association Database (GAD)
CYC1
Human Genome Epidemiology (HuGE) Navigator
CYC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CYC1
genes like me logo Genes that share disorders with CYC1: view

No data available for Genatlas for CYC1 Gene

Publications for CYC1 Gene

  1. Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia. (PMID: 23910460) Gaignard P. … Rustin P. (Am. J. Hum. Genet. 2013) 3 4 64
  2. Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot". (PMID: 20628624) Johnatty S.E. … . (PLoS Genet. 2010) 3 46 64
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency. (PMID: 10453733) Valnot I. … Roetig A. (Hum. Genet. 1999) 3 4 64

Products for CYC1 Gene

Sources for CYC1 Gene

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