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SLC25A26 Gene(Protein Coding)

Solute Carrier Family 25 Member 26

GCID:
GC03P066120
GIFtS:
45
Genes Participants
UDN Logo

Aliases for SLC25A26 Gene

Aliases for SLC25A26 Gene

  • Solute Carrier Family 25 Member 26 2 3 4 5
  • Solute Carrier Family 25 (Mitochondrial Carrier; Phosphate Carrier), Member 26 2 3
  • Solute Carrier Family 25 (S-Adenosylmethionine Carrier), Member 26 2 3
  • Mitochondrial S-Adenosylmethionine Transporter 3 4
  • SAMC 3 4
  • S-Adenosylmethionine Mitochondrial Carrier Protein 3
  • COXPD28 3

External Ids for SLC25A26 Gene

Previous GeneCards Identifiers for SLC25A26 Gene

  • GC03P066226
  • GC03P066376

Summaries for SLC25A26 Gene

Entrez Gene Summary for SLC25A26 Gene

  • This gene is a member of the mitochondrial carrier family which includes nuclear-encoded transporters localized on the inner mitochondrial membranes. Members of the family transport important small molecules across the mitochondrial inner membrane. This protein is involved in the transport of S-adenosylmethionine (SAM) into the mitochondria. Mutations in this gene are associated with combined oxidative phosphorylation deficiency 28. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2017]

GeneCards Summary for SLC25A26 Gene

SLC25A26 (Solute Carrier Family 25 Member 26) is a Protein Coding gene. Diseases associated with SLC25A26 include Combined Oxidative Phosphorylation Deficiency 28. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include S-adenosyl-L-methionine transmembrane transporter activity.

UniProtKB/Swiss-Prot for SLC25A26 Gene

  • Mitochondrial solute carriers shuttle metabolites, nucleotides, and cofactors through the mitochondrial inner membrane. Specifically mediates the transport of S-adenosylmethionine (SAM) into the mitochondria.

Additional gene information for SLC25A26 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC25A26 Gene

Genomics for SLC25A26 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for SLC25A26 Gene

Promoters and enhancers for SLC25A26 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
GH03I066220 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 556.6 +87.5 87504 1.8 HDGF PKNOX1 CLOCK MLX ARID4B SIN3A DMAP1 YY1 ZNF143 FOS SLC25A26 GC03M066157 RNU6-787P
GH03I066132 Enhancer 0.5 ENCODE 550.8 -0.3 -294 1.2 CTCF JUND ZNF316 JUN FOS SLC25A26 MAGI1
GH03I066301 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 19.4 +170.6 170624 5.9 ZNF146 ZNF687 PKNOX1 MAX DPF2 ATF2 IKZF1 ZBTB33 ATF7 RUNX3 SLC25A26 RNU6-787P GC03P066323
GH03I066296 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 16.3 +164.9 164907 3.5 NFIA ZNF384 ZNF664 PRDM6 POLR2A HNF4A NFE2 MAFK SLC25A26 RNU6-787P GC03P066323
GH03I066405 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.6 +273.1 273114 3 ARID4B SIN3A IRF4 ZNF48 RAD21 GLIS2 SCRT2 ZNF143 FOS RUNX3 LRIG1 SLC25A26 DPPA4P1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC25A26 on UCSC Golden Path with GeneCards custom track

Genomic Locations for SLC25A26 Gene

Genomic Locations for SLC25A26 Gene
chr3:66,133,610-66,388,116
(GRCh38/hg38)
Size:
254,507 bases
Orientation:
Plus strand
chr3:66,119,285-66,438,540
(GRCh37/hg19)

Genomic View for SLC25A26 Gene

Genes around SLC25A26 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC25A26 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC25A26 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SLC25A26 Gene

Proteins for SLC25A26 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for SLC25A26 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q70HW3-SAMC_HUMAN
    Recommended name:
    S-adenosylmethionine mitochondrial carrier protein
    Protein Accession:
    Q70HW3
    Secondary Accessions:
    • A8K758
    • B3KRZ7
    • Q7Z786
    • Q96E68

    Protein attributes for SLC25A26 Gene

    Size:
    274 amino acids
    Molecular mass:
    29381 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC25A26 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC25A26 Gene

Protein Expression for SLC25A26 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SLC25A26 Gene

No Post-translational modifications

Other Protein References for SLC25A26 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC25A26 Gene

Domains & Families for SLC25A26 Gene

Gene Families for SLC25A26 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC25A26 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC25A26 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q70HW3

UniProtKB/Swiss-Prot:

SAMC_HUMAN :
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
Family:
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
genes like me logo Genes that share domains with SLC25A26: view

Function for SLC25A26 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for SLC25A26 Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
Strongly inhibited by tannic acid and Bromocresol Purple.
UniProtKB/Swiss-Prot Function:
Mitochondrial solute carriers shuttle metabolites, nucleotides, and cofactors through the mitochondrial inner membrane. Specifically mediates the transport of S-adenosylmethionine (SAM) into the mitochondria.

Phenotypes From GWAS Catalog for SLC25A26 Gene

Gene Ontology (GO) - Molecular Function for SLC25A26 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000095 S-adenosyl-L-methionine transmembrane transporter activity IMP 14674884
genes like me logo Genes that share ontologies with SLC25A26: view
genes like me logo Genes that share phenotypes with SLC25A26: view

Human Phenotype Ontology for SLC25A26 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC25A26 Gene

Localization for SLC25A26 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC25A26 Gene

Mitochondrion inner membrane; Multi-pass 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 SLC25A26 gene
Compartment Confidence
mitochondrion 5
extracellular 3
plasma membrane 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC25A26 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,IBA --
genes like me logo Genes that share ontologies with SLC25A26: view

Pathways & Interactions for SLC25A26 Gene

genes like me logo Genes that share pathways with SLC25A26: view

Interacting Proteins for SLC25A26 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 12)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000336801%0d%0a9606.ENSP00000349977%0d%0a9606.ENSP00000356641%0d%0a9606.ENSP00000351813%0d%0a9606.ENSP00000237201%0d%0a9606.ENSP00000360683%0d%0a
Selected Interacting proteins: ENSP00000336801 Q70HW3-SAMC_HUMAN for SLC25A26 Gene via STRING IID

Gene Ontology (GO) - Biological Process for SLC25A26 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport TAS --
GO:0006839 mitochondrial transport IBA --
GO:0015805 S-adenosyl-L-methionine transport IMP 14674884
GO:1901962 S-adenosyl-L-methionine transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC25A26: view

No data available for SIGNOR curated interactions for SLC25A26 Gene

Drugs & Compounds for SLC25A26 Gene

Products:

  1. Drug

(1) Additional Compounds for SLC25A26 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine
  • 2-S-Adenosyl-L-methionine
  • 5'-Deoxyadenosine-5'-L-methionine disulfate ditosylate
  • 5'-Deoxyadenosine-5'-L-methionine disulphate ditosylate
  • Active methionine
 29908-03-0
genes like me logo Genes that share compounds with SLC25A26: view

Transcripts for SLC25A26 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for SLC25A26 Gene

(13) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(156) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SLC25A26 Gene

Solute carrier family 25 (S-adenosylmethionine carrier), member 26:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A26 Gene

No ASD Table

Relevant External Links for SLC25A26 Gene

GeneLoc Exon Structure for
SLC25A26
ECgene alternative splicing isoforms for
SLC25A26

Expression for SLC25A26 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC25A26 Gene

mRNA expression in normal human tissues for SLC25A26 Gene
mRNA expression by BioGPS for SLC25A26 GenemRNA expression by GTEx for SLC25A26 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SLC25A26 Gene

This gene is overexpressed in Liver, secretome (47.5) and Frontal cortex (12.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC25A26 Gene



Protein tissue co-expression partners for SLC25A26 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC25A26 Gene:

SLC25A26

SOURCE GeneReport for Unigene cluster for SLC25A26 Gene:

Hs.379386

mRNA Expression by UniProt/SwissProt for SLC25A26 Gene:

Q70HW3-SAMC_HUMAN
Tissue specificity: Widely expressed. Highly expressed in testis, with moderate expression in brain, heart, kidney, lung, skeletal muscle, pancreas, small intestine and liver, and low expression in spleen.

Evidence on tissue expression from TISSUES for SLC25A26 Gene

  • Muscle(4.2)
  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with SLC25A26: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC25A26 Gene

Orthologs for SLC25A26 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC25A26 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia SLC25A26 34
  • 98 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia SLC25A26 33 34
  • 91.85 (n)
cow
(Bos Taurus)
 Mammalia SLC25A26 33 34
  • 88.93 (n)
mouse
(Mus musculus)
 Mammalia Slc25a26 33 16 34
  • 84.43 (n)
oppossum
(Monodelphis domestica)
 Mammalia SLC25A26 34
  • 82 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Slc25a26 33
  • 79.75 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia SLC25A26 34
  • 78 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves SLC25A26 33 34
  • 79.62 (n)
lizard
(Anolis carolinensis)
 Reptilia SLC25A26 34
  • 79 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia slc25a26 33
  • 68.41 (n)
Str.3522 33
African clawed frog
(Xenopus laevis)
 Amphibia Xl.6675 33
zebrafish
(Danio rerio)
 Actinopterygii slc25a26 33 34
  • 65.79 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP003536 33
  • 51.72 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CG4743 33 34
  • 50.88 (n)
worm
(Caenorhabditis elegans)
 Secernentea CELE_D1046.3 33
  • 51.96 (n)
D1046.3 34
  • 46 (a)
 OneToOne
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes PET8 33 34 36
  • 51.95 (n)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0D04950g 33
  • 51.09 (n)
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_AAL014C 33
  • 49.22 (n)
thale cress
(Arabidopsis thaliana)
 eudicotyledons SAMC1 33
  • 45.96 (n)
rice
(Oryza sativa)
 Liliopsida Os07g0295000 33
  • 47.79 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 53 (a)
 OneToOne
bread mold
(Neurospora crassa)
 Ascomycetes NCU01568 33
  • 51 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes SPAC12B10.09 33
  • 50.8 (n)
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.2574 33
Species where no ortholog for SLC25A26 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • wheat (Triticum aestivum)

Evolution for SLC25A26 Gene

ENSEMBL:
Gene Tree for SLC25A26 (if available)
TreeFam:
Gene Tree for SLC25A26 (if available)

Paralogs for SLC25A26 Gene

No data available for Paralogs for SLC25A26 Gene

Variants for SLC25A26 Gene

Sequence variations from dbSNP and Humsavar for SLC25A26 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs781798317 pathogenic, Combined oxidative phosphorylation deficiency 28 66,221,128(+) G/A intron_variant, splice_donor_variant
rs869025313 pathogenic, Combined oxidative phosphorylation deficiency 28 66,263,369(+) T/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs869025314 pathogenic, Combined oxidative phosphorylation deficiency 28 66,262,055(+) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs869025315 pathogenic, Combined oxidative phosphorylation deficiency 28 66,369,505(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
VAR_076305 Combined oxidative phosphorylation deficiency 28 (COXPD28) [MIM:616794] p.Ala102Val

Structural Variations from Database of Genomic Variants (DGV) for SLC25A26 Gene

Variant ID Type Subtype PubMed ID
esv2605299 CNV insertion 19546169
esv2725368 CNV deletion 23290073
esv3568826 CNV loss 25503493
esv3568827 CNV loss 25503493
esv3568828 CNV loss 25503493
esv3568829 CNV loss 25503493
esv3596435 CNV gain 21293372
esv3596436 CNV loss 21293372
esv3893717 CNV loss 25118596
nsv1008647 CNV gain 25217958
nsv473157 CNV novel sequence insertion 20440878
nsv473641 CNV novel sequence insertion 20440878
nsv473685 CNV novel sequence insertion 20440878
nsv475756 CNV novel sequence insertion 20440878
nsv477280 CNV novel sequence insertion 20440878
nsv477938 CNV novel sequence insertion 20440878
nsv478607 CNV novel sequence insertion 20440878
nsv478986 CNV novel sequence insertion 20440878
nsv479024 CNV novel sequence insertion 20440878
nsv479126 CNV novel sequence insertion 20440878
nsv479167 CNV novel sequence insertion 20440878
nsv479285 CNV novel sequence insertion 20440878
nsv479295 CNV novel sequence insertion 20440878
nsv479389 CNV novel sequence insertion 20440878
nsv479584 CNV novel sequence insertion 20440878
nsv479629 CNV novel sequence insertion 20440878
nsv479746 CNV novel sequence insertion 20440878
nsv480182 CNV novel sequence insertion 20440878
nsv480247 CNV novel sequence insertion 20440878
nsv480372 CNV novel sequence insertion 20440878
nsv480411 CNV novel sequence insertion 20440878
nsv480541 CNV novel sequence insertion 20440878
nsv480748 CNV novel sequence insertion 20440878
nsv480813 CNV novel sequence insertion 20440878
nsv480829 CNV novel sequence insertion 20440878
nsv480931 CNV novel sequence insertion 20440878
nsv481082 CNV novel sequence insertion 20440878
nsv481246 CNV novel sequence insertion 20440878
nsv481305 CNV novel sequence insertion 20440878
nsv481460 CNV novel sequence insertion 20440878
nsv516847 CNV loss 19592680
nsv528820 CNV loss 19592680
nsv590546 CNV gain 21841781

Variation tolerance for SLC25A26 Gene

Residual Variation Intolerance Score: 78% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.84; 89.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC25A26 Gene

Human Gene Mutation Database (HGMD)
SLC25A26
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC25A26

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC25A26 Gene

Disorders for SLC25A26 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC25A26 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
combined oxidative phosphorylation deficiency 28
  • coxpd28
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SAMC_HUMAN
  • Combined oxidative phosphorylation deficiency 28 (COXPD28) [MIM:616794]: An autosomal recessive mitochondrial disorder characterized by decreased activities of respiratory chain enzymes, and variable clinical manifestations. Clinical features include episodic metabolic decompensation beginning in infancy, mild muscle weakness, cardiorespiratory insufficiency, developmental delay, or even death. {ECO:0000269 PubMed:26522469}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SLC25A26

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 SLC25A26: view

No data available for Genatlas for SLC25A26 Gene

Publications for SLC25A26 Gene

  1. Identification of the human mitochondrial S-adenosylmethionine transporter: bacterial expression, reconstitution, functional characterization and tissue distribution. (PMID: 14674884) Agrimi G … Palmieri F (The Biochemical journal 2004) 2 3 4 22 58
  2. Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26. (PMID: 26522469) Kishita Y … Wedell A (American journal of human genetics 2015) 3 4 58
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for SLC25A26 Gene

Sources for SLC25A26 Gene

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