SLC25A38 Gene
protein-coding GIFtS: 49
GCID: GC03P039433
|
|
solute carrier family 25, member 38
| |
Aliases for SLC25A38 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Solute Carrier Family 25, Member 381 2 | | FLJ205511 | | Solute Carrier Family 25 Member 382 |
Export aliases for SLC25A38 gene to outside databasesPrevious GC identifer: GC03P039400 |
Summaries for SLC25A38 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for SLC25A38: This gene is a member of the mitochondrial carrier family. The encoded protein is required during erythropoiesis and isimportant for the biosynthesis of heme. Mutations in this gene are the cause of autosomal congenital sideroblasticanemia.(provided by RefSeq, Mar 2010) UniProtKB/Swiss-Prot: S2538_HUMAN, Q96DW6Function: Mitochondrial carrier required during erythropoiesis. Probably involved in the biosynthesis of heme, possiblyby facilitating 5-aminolevulinate (ALA) production. May act by importing glycine into mitochondria or by exchangingglycine for ALA across the mitochondrial inner membrane
|
Genomic Views for SLC25A38 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000003.11 NC_018914.1 NT_022517.18
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the SLC25A38 gene promoter: AhR C/EBPbeta AP-2gamma Ik-3 Arnt AP-2beta NF-Y AP-2alpha CBF(2) AP-2alphaA Other transcription factors
Search SABiosciences Chromatin IP Primers for SLC25A38
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC25A38 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 3p22.1 Ensembl cytogenetic band: 3p22.1 HGNC cytogenetic band: 3p22.1SLC25A38 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03P039433: view genomic region
(about GC identifiers)
Start:
|
39,424,815 bp from pter |
End:
|
39,438,819 bp from pter |
Size:
|
14,005 bases |
Orientation:
|
plus strand |
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Proteins for SLC25A38 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: S2538_HUMAN, Q96DW6 (See
protein sequence)Recommended Name: Solute carrier family 25 member 38 Size: 304 amino acids; 33566 Da
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein (By similarity)
Secondary accessions: Q9NWX2Explore the universe of human proteins at neXtProt for SLC25A38: NX_Q96DW6
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q96DW6 SLC25A38 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_060345.2 ENSEMBL proteins: ENSP00000273158 ENSP00000394244 Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005743 | mitochondrial inner membrane |
IEA | -- | | GO:0016021 | integral to membrane |
IEA | -- |
SLC25A38 for ontologies About GeneDecksing
SLC25A38 Antibody Products: Assay Products for SLC25A38: |
Protein
Domains / Families for SLC25A38 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SLC25A38 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q96DW6ProtoNet protein and cluster: Q96DW6 UniProtKB/Swiss-Prot: S2538_HUMAN, Q96DW6Similarity: Belongs to the mitochondrial carrier (TC 2.A.29) family. SLC25A38 subfamilySimilarity: Contains 3 Solcar repeats |
Function for SLC25A38 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: S2538_HUMAN, Q96DW6Function: Mitochondrial carrier required during erythropoiesis. Probably involved in the biosynthesis of heme, possiblyby facilitating 5-aminolevulinate (ALA) production. May act by importing glycine into mitochondria or by exchangingglycine for ALA across the mitochondrial inner membrane
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SLC25A38 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SLC25A38 (see all 2) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: SLC25A38 (NM_017875) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
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In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A38 |
Animal Models: 2 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Slc25a38):
SLC25A38 for phenotypes About GeneDecksing
|
Pathways & Interactions for SLC25A38 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC25A38
STRING Interaction
Network Preview (showing 2 interactants - click image to see more details)
 5/17 Interacting proteins for SLC25A38 (Q96DW62, 3 ENSP000002731584) via UniProtKB, MINT, STRING, and/or I2D (see all 17)About this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table
SLC25A38 for ontologies About GeneDecksing
|
Drugs & Compounds for SLC25A38 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
Browse Tocris compounds for SLC25A38 Search CenterWatch for drugs/clinical trials and news about SLC25A38 / S2538 
|
Transcripts for SLC25A38 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for SLC25A38 gene: NM_017875.2 Unigene Cluster for SLC25A38: Solute carrier family 25, member 38 Hs.369615 [show with all ESTs]Unigene Representative Sequence: NM_0178752 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000273158(uc003cjo.2) ENST00000431510
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SLC25A38 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SLC25A38 (see all 2) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: SLC25A38 (NM_017875) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SLC25A38 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC25A38  |
Additional cDNA sequence: AK000558.1 AK026356.1 AK225388.1 BC013194.1 CR457242.1 8 DOTS entries: DT.445347 DT.120903404 DT.92409597 DT.120903380 DT.121366996 DT.100794251 DT.120903379 DT.121387244 24/272 AceView cDNA sequences (see all 272): CD369564 BM457448 AI654119 CR621188 R98449 AI418864 BU527922 BM823866 BI831706 CR614324 CA393864 AW162088 BM801953 BQ918550 AA127279 BQ638064 AW272892 CR619847 AA127278 BC013194 AW474086 BQ217265 AV708275 BM726696 GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A38 About this scheme
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | |
| SP1: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | - |   | - |   | - |   | - |   | - |   | - |   | |   | |   | |   |
ECgene alternative splicing isoforms for SLC25A38
|
Expression for SLC25A38 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| SLC25A38 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: ACCAGGTGGA
About this image See SLC25A38 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for SLC25A38
SOURCE GeneReport for Unigene cluster: Hs.369615 UniProtKB/Swiss-Prot: S2538_HUMAN, Q96DW6Tissue specificity: Preferentially expressed in erythroid cells SABiosciences Custom PCR Arrays for SLC25A38
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SLC25A38 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SLC25A38 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SLC25A38 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SLC25A38 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A38 |
Orthologs for SLC25A38 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals and fungi.
Orthologs for SLC25A38 gene from 5/24 species (see all 24) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
chicken (Gallus gallus) |
Aves |
SLC25A381 |
solute carrier family 25, member 38 |
71.89(n) 73.67(a) |
  |
420717 XM_418818.2 XP_418818.1 |
lizard (Anolis carolinensis) |
Reptilia |
SLC25A386 |
-- |
53(a) |
1 ↔ 1 |
GL343324.1(464498-503614) |
zebrafish (Danio rerio) |
Actinopterygii |
slc25a38b1 |
solute carrier family 25 member 38-B |
63.29(n) 62.24(a) |
  |
571961 NM_001202458.1 NP_001189387.1 |
honey bee (Apis mellifera) |
Insecta |
-- |
-- |
45(a) |
1 ↔ 1 |
GroupUn.41(20392-23944) |
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes |
(YDL119C)4 YDL119C1 |
Putative mitochondrial transport protein; GFP-fusion more4 hypothetical protein1 |
45.49(n)1 37.65(a)1 |
  |
4(247612-246689)4 8514391, 4 NP_010164.11, 4 |
ENSEMBL Gene Tree for SLC25A38 (if available) TreeFam Gene Tree for SLC25A38 (if available)  |
Paralogs for SLC25A38 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for SLC25A38 gene
1 SIMAP similar gene for SLC25A38 using alignment to 2 protein entries: S2538_HUMAN (see all proteins):SLC25A17
SLC25A38 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for SLC25A38 PGOHUM00000245087
|
Genomic Variants for SLC25A38 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 3 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for SLC25A38 (39424815 - 39438819 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for SLC25A38: -- Human Gene Mutation Database (HGMD): SLC25A38
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SLC25A38 |
|
Disorders
/ Diseases for SLC25A38 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
SLC25A38 for disorders About GeneDecksing
OMIM gene information: 610819 OMIM disorders: 205950 UniProtKB/Swiss-Prot: S2538_HUMAN, Q96DW6
Defects in SLC25A38 are a cause of anemia sideroblastic pyridoxine-refractory autosomal recessive (PRARSA)[MIM:205950]. A form of sideroblastic anemia not responsive to pyridoxine. Sideroblastic anemia is characterized byanemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronicineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized byiron-loaded mitochondria clustered around the nucleus 4 diseases for SLC25A38: About MalaCardssideroblastic anemia anemia iron overload pearson syndrome 2 diseases from the University of Copenhagen DISEASES database for SLC25A38:Sideroblastic anemia Pearson syndrome Export disorders for SLC25A38 gene to outside databases
|
Publications for SLC25A38 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for SLC25A38 gene, integrated from 9 sources (see all 11): (articles sorted by number of sources associating them with SLC25A38) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Fourteen novel human members of mitochondrial solute carrier family 25 (SLC25) widely expressed in the central nervous system. (PubMed id 16949250)1, 2, 3 Haitina T.... Fredriksson R. (2006)
- Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. (PubMed id 19412178)1, 2 Guernsey D.L.... Samuels M.E. (2009)
- Missense SLC25A38 variations play an important role i n autosomal recessive inherited sideroblastic anemia. (PubMed id 21393332)1 Kannengiesser C....May A. (2011)
- Systematic molecular genetic analysis of congenital s ideroblastic anemia: evidence for genetic heterogeneity and identification of n ovel mutations. (PubMed id 19731322)1 Bergmann A.K....Neufeld E.J. (2010)
- hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
- A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
|
External Searches for SLC25A38 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing SLC25A38 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing SLC25A38 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing SLC25A38 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| PharmGKB entry for SLC25A38 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for SLC25A38 gene: Search GeneIP for patents involving SLC25A38
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for SLC25A38 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
|
 | |
 | |
 |
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 | | SLC25A38 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A38 |
|  |  |  | | | Search ThermoFisher Antibodies for SLC25A38 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC25A38 |
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