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Aliases for SPR Gene

Aliases for SPR Gene

  • Sepiapterin Reductase 2 3
  • Sepiapterin Reductase (7,8-Dihydrobiopterin:NADP+ Oxidoreductase) 2 3 5
  • Sepiapterin Reductase (L-Erythro-7,8-Dihydrobiopterin Forming) 2 3
  • Short Chain Dehydrogenase/Reductase Family 38C, Member 1 2 3
  • EC 1.1.1.153 4 58
  • SDR38C1 3

External Ids for SPR Gene

Previous GeneCards Identifiers for SPR Gene

  • GC02P073124
  • GC02P073325
  • GC02P073089
  • GC02P073026
  • GC02P072968

Summaries for SPR Gene

Entrez Gene Summary for SPR Gene

  • This gene encodes an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and is important in the biosynthesis of tetrahydrobiopterin (BH4). Mutations in this gene result in DOPA-responsive dystonia due to sepiaterin reductase deficiency. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008]

GeneCards Summary for SPR Gene

SPR (Sepiapterin Reductase) is a Protein Coding gene. Diseases associated with SPR include Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency and Dystonia. Among its related pathways are eNOS activation and regulation and Metabolism. GO annotations related to this gene include oxidoreductase activity and aldo-keto reductase (NADP) activity.

UniProtKB/Swiss-Prot for SPR Gene

  • Catalyzes the final one or two reductions in tetra-hydrobiopterin biosynthesis to form 5,6,7,8-tetrahydrobiopterin.

Gene Wiki entry for SPR Gene

Additional gene information for SPR Gene

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

Genomics for SPR Gene

Regulatory Elements for SPR Gene

Enhancers for SPR 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
GH02H073175 1.7 FANTOM5 Ensembl ENCODE 11.2 +289.3 289295 3 HDGF ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B SLC30A9 ZNF143 SP3 ALMS1 SMYD5 SFXN5 ENSG00000273245 PRADC1 NOTO SPR EMX1 CCT7 EGR4
GH02H072915 1.5 FANTOM5 Ensembl ENCODE 11.7 +30.0 30043 4 PKNOX1 SIN3A ARID4B GLIS2 ZNF207 RUNX3 SP3 SP5 NFYC REST SPR SFXN5 EMX1 ENSG00000278060
GH02H073109 1.6 FANTOM5 ENCODE dbSUPER 10 +224.5 224536 5 PKNOX1 ATF1 ARID4B SIN3A DMAP1 ZNF2 GLIS2 FOS SP3 SP5 ENSG00000273245 RAB11FIP5 SFXN5 ALMS1 DUSP11 EMX1 SPR SMYD5 ENSG00000272702 PIR41361
GH02H073083 1.4 Ensembl ENCODE dbSUPER 10.2 +200.8 200791 9 FOXA2 ZSCAN4 ARID4B DNMT3B ZNF2 RAD21 RARA ZNF366 SCRT2 ZNF143 RAB11FIP5 SPR PIR41361 GC02M073110 ENSG00000272702
GH02H072756 1.3 Ensembl ENCODE 9.5 -129.9 -129928 1 PKNOX1 FOXA2 ATF1 MLX ARID4B YY1 SLC30A9 ZNF766 GATA2 ELK1 CYP26B1 SPR GC02P072760 RNU2-39P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SPR on UCSC Golden Path with GeneCards custom track

Promoters for SPR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000118983 240 1201 ARID4B SIN3A ZNF2 YY1 ZNF766 ZNF143 SP3 SP5 REST KAT8

Genomic Location for SPR Gene

Chromosome:
2
Start:
72,887,360 bp from pter
End:
72,892,160 bp from pter
Size:
4,801 bases
Orientation:
Plus strand

Genomic View for SPR Gene

Genes around SPR on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for SPR Gene

Proteins for SPR Gene

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

    Protein Symbol:
    P35270-SPRE_HUMAN
    Recommended name:
    Sepiapterin reductase
    Protein Accession:
    P35270
    Secondary Accessions:
    • A8K741
    • D6W5H2
    • Q53GI9
    • Q9UBB1

    Protein attributes for SPR Gene

    Size:
    261 amino acids
    Molecular mass:
    28048 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for SPR Gene

neXtProt entry for SPR Gene

Selected DME Specific Peptides for SPR Gene

P35270:
  • SGAHVDFYD
  • MQQLARETS

Post-translational modifications for SPR Gene

  • In vitro phosphorylation of Ser-213 by CaMK2 does not change kinetic parameters.
  • Ubiquitination at Lys240
  • Modification sites at PhosphoSitePlus

Other Protein References for SPR Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for SPR Gene

Gene Families for SPR Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for SPR Gene

Suggested Antigen Peptide Sequences for SPR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P35270

UniProtKB/Swiss-Prot:

SPRE_HUMAN :
  • Belongs to the sepiapterin reductase family.
Family:
  • Belongs to the sepiapterin reductase family.
genes like me logo Genes that share domains with SPR: view

Function for SPR Gene

Molecular function for SPR Gene

GENATLAS Biochemistry:
sepiapterin reductase,catalyzing the final step of tetrahydrobiopterin (BH4) synthesis,cofactor for aromatic aminoacid hydroxylase and nitric oxid synthase
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=14.3 uM for sepiapterin {ECO:0000269 PubMed:11825621}; KM=10 uM for NADPH {ECO:0000269 PubMed:11825621};
UniProtKB/Swiss-Prot CatalyticActivity:
L-erythro-7,8-dihydrobiopterin + NADP(+) = sepiapterin + NADPH.
UniProtKB/Swiss-Prot CatalyticActivity:
L-erythro-tetrahydrobiopterin + 2 NADP(+) = 6-pyruvoyl-5,6,7,8-tetrahydropterin + 2 NADPH.
UniProtKB/Swiss-Prot Function:
Catalyzes the final one or two reductions in tetra-hydrobiopterin biosynthesis to form 5,6,7,8-tetrahydrobiopterin.

Enzyme Numbers (IUBMB) for SPR Gene

Phenotypes From GWAS Catalog for SPR Gene

Gene Ontology (GO) - Molecular Function for SPR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004033 aldo-keto reductase (NADP) activity TAS 1883349
GO:0004757 sepiapterin reductase activity TAS --
GO:0016491 oxidoreductase activity IEA --
GO:0050661 NADP binding TAS 1883349
genes like me logo Genes that share ontologies with SPR: view
genes like me logo Genes that share phenotypes with SPR: view

Human Phenotype Ontology for SPR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SPR Gene

MGI Knock Outs for SPR:

Animal Model Products

  • Taconic Biosciences Mouse Models for SPR

CRISPR Products

miRNA for SPR Gene

miRTarBase miRNAs that target SPR

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SPR
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Transcription Factor Targets and HOMER Transcription for SPR Gene

Localization for SPR Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPR Gene

Cytoplasm.

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 SPR gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
mitochondrion 2
plasma membrane 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SPR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with SPR: view

Pathways & Interactions for SPR Gene

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

Gene Ontology (GO) - Biological Process for SPR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006729 tetrahydrobiopterin biosynthetic process TAS 1883349
GO:0006809 nitric oxide biosynthetic process IDA 15197144
GO:0050999 regulation of nitric-oxide synthase activity TAS --
GO:0055114 oxidation-reduction process TAS 1883349
genes like me logo Genes that share ontologies with SPR: view

No data available for SIGNOR curated interactions for SPR Gene

Drugs & Compounds for SPR Gene

(13) Drugs for SPR Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sapropterin Approved, Investigational Pharma 0
2'-Monophosphoadenosine 5'-Diphosphoribose Experimental Pharma Target 0
Biopterin Experimental Pharma Target 0
N-Acetyl Serotonin Experimental Pharma Target 0
Oxaloacetate Ion Experimental Pharma Target 0

(16) Additional Compounds for SPR Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
Sepiapterin
  • (S)-2-amino-7,8-dihydro-6-(2-hydroxy-1-oxopropyl)-4(1H)-Pteridinone
  • 1-(2-Amino-7,8-dihydro-4-hydroxy-6-pteridinyl)-2-hydroxy-1-Propanone
  • 2-Amino-6-(S)-lactoyl-7,8-dihydro-4(3H)-pteridinone
  • 2-Amino-7,8-dihydro-6-[(2S)-2-hydroxy-1-oxopropyl]-4(1H)Pteridinone
  • L-Sepiapterin
17094-01-8
1-hydroxy-2-Oxopropyl tetrahydropterin
6-Lactoyltetrahydropterin
  • 6-Lactoyl tetrahydropterin
  • 6-Lactoyl-5,6,7,8-tetrahydropterin
  • Lactoyl-H4-pterin
  • Lactoyl-PH4
33405-80-0
Dyspropterin
  • 6-(1,2-Dioxopropyl)-5,6,7,8-tetrahydropterin
  • 6-Pyruvoyl-5,6,7,8-tetrahydropterin
  • 6-Pyruvoyl-tetrahydropterin
  • 6-Pyruvoyltetrahydropterin
  • Dyspropterin
89687-39-8
genes like me logo Genes that share compounds with SPR: view

Transcripts for SPR Gene

mRNA/cDNA for SPR Gene

Unigene Clusters for SPR Gene

Sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SPR
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

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

Relevant External Links for SPR Gene

GeneLoc Exon Structure for
SPR
ECgene alternative splicing isoforms for
SPR

Expression for SPR Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Liver (x4.5).

Protein differential expression in normal tissues from HIPED for SPR Gene

This gene is overexpressed in Bone (29.1).

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



Protein tissue co-expression partners for SPR Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SPR Gene:

SPR

SOURCE GeneReport for Unigene cluster for SPR Gene:

Hs.301540

Evidence on tissue expression from TISSUES for SPR Gene

  • Liver(4.4)
  • Kidney(4.3)
  • Pancreas(4.2)
  • Nervous system(2.4)
  • Skin(2.1)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • mouth
  • pharynx
  • skull
Thorax:
  • chest wall
  • heart
Abdomen:
  • abdominal wall
  • kidney
General:
  • blood vessel
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with SPR: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for SPR Gene

Orthologs for SPR Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SPR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPR 33 34
  • 97.7 (n)
cow
(Bos Taurus)
Mammalia SPR 33 34
  • 85.84 (n)
dog
(Canis familiaris)
Mammalia SPR 33 34
  • 85.1 (n)
mouse
(Mus musculus)
Mammalia Spr 33 16 34
  • 79.2 (n)
Spr-ps1 34
  • 66 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Spr 33
  • 78.72 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 71 (a)
OneToMany
-- 34
  • 68 (a)
OneToMany
-- 34
  • 54 (a)
OneToMany
chicken
(Gallus gallus)
Aves SPR 33 34
  • 68.12 (n)
lizard
(Anolis carolinensis)
Reptilia SPR 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia spr 33
  • 60.44 (n)
African clawed frog
(Xenopus laevis)
Amphibia spr-prov 33
zebrafish
(Danio rerio)
Actinopterygii spra 33 34
  • 60.78 (n)
sprb 34
  • 47 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008000 33
  • 50.8 (n)
fruit fly
(Drosophila melanogaster)
Insecta Sptr 35 33 34
  • 47.2 (n)
CG12116 34
  • 26 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 34
  • 28 (a)
OneToMany
IRC24 34 36
  • 27 (a)
OneToMany
Species where no ortholog for SPR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SPR Gene

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

Paralogs for SPR Gene

Pseudogenes.org Pseudogenes for SPR Gene

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

No data available for Paralogs for SPR Gene

Variants for SPR Gene

Sequence variations from dbSNP and Humsavar for SPR Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs104893665 Pathogenic, Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency (DRDSPRD) [MIM:612716] 72,888,457(+) TCAAC(A/G)GAACC reference, missense
rs104893666 Pathogenic, Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency (DRDSPRD) [MIM:612716] 72,888,497(+) GCAAC(C/T)TTTCA reference, missense
rs121917746 Pathogenic 72,888,364(+) CCACT(C/T)AAGTG reference, stop-gained
rs121917747 Pathogenic 72,891,502(+) AGTTC(A/T)AGTCT reference, stop-gained
rs387907200 Pathogenic 72,887,736(+) ACGCG(G/T)GTAAG reference, missense

Variation tolerance for SPR Gene

Residual Variation Intolerance Score: 41.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.38; 8.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPR Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SPR Gene

Disorders for SPR Gene

MalaCards: The human disease database

(6) MalaCards diseases for SPR Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
dystonia, dopa-responsive, due to sepiapterin reductase deficiency
  • sepiapterin reductase deficiency
dystonia
  • dystonic disease
hyperphenylalaninemia
  • hyperphenylalaninemia, non-phenylketonuric
tetrahydrobiopterin deficiency
  • bh4 deficiency
hypersomnia
- elite association - COSMIC cancer census association via MalaCards
Search SPR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SPRE_HUMAN
  • Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency (DRDSPRD) [MIM:612716]: A form of DOPA-responsive dystonia. In the majority of cases, patients manifest progressive psychomotor retardation, dystonia and spasticity. Cognitive anomalies are also often present. The disease is due to severe dopamine and serotonin deficiencies in the central nervous system caused by a defect in BH4 synthesis. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. {ECO:0000269 PubMed:11443547, ECO:0000269 PubMed:16650784, ECO:0000269 PubMed:17159114}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SPR

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

No data available for Genatlas for SPR Gene

Publications for SPR Gene

  1. Cloning and sequencing of cDNA encoding human sepiapterin reductase--an enzyme involved in tetrahydrobiopterin biosynthesis. (PMID: 1883349) Ichinose H … Nagatsu T (Biochemical and biophysical research communications 1991) 2 3 4 22 60
  2. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. (PMID: 19491146) Clot F … French Dystonia Network (Brain : a journal of neurology 2009) 3 22 45 60
  3. Polymorphisms of sepiapterin reductase gene alter promoter activity and may influence risk of bipolar disorder. (PMID: 19415819) McHugh PC … Kennedy MR (Pharmacogenetics and genomics 2009) 3 22 45 60
  4. The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations. (PMID: 16443856) Sharma M … European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD) (Journal of medical genetics 2006) 3 22 45 60
  5. Mutational analysis of sites in sepiapterin reductase phosphorylated by Ca2+/calmodulin-dependent protein kinase II. (PMID: 11825621) Fujimoto K … Katoh S (Biochimica et biophysica acta 2002) 3 4 22 60

Products for SPR Gene

Sources for SPR Gene

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