Aliases for SLC25A4 Gene
Aliases for SLC25A4 Gene
- Solute Carrier Family 25 Member 4 2 3 4 5
- Solute Carrier Family 25 (Mitochondrial Carrier; Adenine Nucleotide Translocator), Member 4 2 3
- ADP,ATP Carrier Protein 1 3 4
- ANT 1 3 4
- ANT1 3 4
- ADP,ATP Carrier Protein, Heart/Skeletal Muscle Isoform T1 4
- Adenine Nucleotide Translocator 1 (Skeletal Muscle) 3
- ADP,ATP Carrier Protein, Heart/Skeletal Muscle 3
- Heart/Skeletal Muscle ATP/ADP Translocator 3
- Adenine Nucleotide Translocator 1 4
External Ids for SLC25A4 Gene
- HGNC: 10990
- Entrez Gene: 291
- Ensembl: ENSG00000151729
- OMIM: 103220
- UniProtKB: P12235
Previous HGNC Symbols for SLC25A4 Gene
- PEO3
- PEO2
- ANT1
Previous GeneCards Identifiers for SLC25A4 Gene
- GC04P187100
- GC04P186744
- GC04P186648
- GC04P186760
- GC04P186439
- GC04P186301
- GC04P186064
- GC04P181818
Summaries for SLC25A4 Gene
-
This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein forms a homodimer embedded in the inner mitochondria membrane. Mutations in this gene have been shown to result in autosomal dominant progressive external opthalmoplegia and familial hypertrophic cardiomyopathy. [provided by RefSeq, Jun 2013]
GeneCards Summary for SLC25A4 Gene
SLC25A4 (Solute Carrier Family 25 Member 4) is a Protein Coding gene. Diseases associated with SLC25A4 include Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 and Mitochondrial Dna Depletion Syndrome 12. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Integration of energy metabolism. GO annotations related to this gene include transporter activity and adenine transmembrane transporter activity. An important paralog of this gene is SLC25A6.
UniProtKB/Swiss-Prot for SLC25A4 Gene
-
Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC25A4 Gene
Genomics for SLC25A4 Gene
Regulatory Elements for SLC25A4 Gene
Enhancers for SLC25A4 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 |
|---|---|---|---|---|---|---|---|---|
| GH04G185115 | 1.5 | Ensembl ENCODE dbSUPER | 12.3 | -27.1 | -27114 | 0.7 | HDGF ATF1 CREB3L1 ARID4B YY1 TCF12 GATA2 FOS NFYC REST | SLC25A4 HELT LOC105377588 |
| GH04G185111 | 1.3 | Ensembl ENCODE dbSUPER | 11.9 | -30.3 | -30327 | 3.0 | TBP CTCF SREBF2 JUN MAX YY1 FOSL1 POLR3A NCOR1 NR2F6 | SLC25A4 HELT LOC105377588 |
| GH04G185118 | 0.8 | dbSUPER | 18.5 | -23.2 | -23227 | 2.2 | HDGF ARNT CHAMP1 FOSL1 ZFHX2 ZNF316 GATA2 EGR1 PATZ1 NFE2 | SLC25A4 HELT LOC105377588 |
| GH04G185119 | 0.8 | dbSUPER | 18.5 | -22.8 | -22790 | 1.0 | HDGF ARNT CHAMP1 FOSL1 ZFHX2 ZNF316 GATA2 EGR1 PATZ1 NFE2 | SLC25A4 HELT LOC105377588 |
| GH04G185117 | 0.8 | dbSUPER | 12.3 | -25.7 | -25716 | 0.5 | HDAC1 CTCF MXI1 UBTF CEBPG ZBTB40 RAD21 TCF12 ZNF316 SMC3 | SLC25A4 HELT LOC105377588 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around SLC25A4 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the SLC25A4 gene promoter:
Regulatory Element Products
Genomic Location for SLC25A4 Gene
- Chromosome:
- 4
- Start:
- 185,143,241 bp from pter
- End:
- 185,150,384 bp from pter
- Size:
- 7,144 bases
- Orientation:
- Plus strand
Genomic View for SLC25A4 Gene
Genes around SLC25A4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 4q35.1 by Ensembl
- 4q35.1 by Entrez Gene
- 4q35.1 by HGNC
SLC25A4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SLC25A4 Gene
Proteins for SLC25A4 Gene
-
Protein details for SLC25A4 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P12235-ADT1_HUMAN
- Recommended name:
- ADP/ATP translocase 1
- Protein Accession:
- P12235
- D3DP59
Protein attributes for SLC25A4 Gene
- Size:
- 298 amino acids
- Molecular mass:
- 33064 Da
- Quaternary structure:
-
- Found in a complex with ARL2, ARL2BP and SLC25A4. Interacts with ARL2BP (By similarity). Homodimer. Interacts with HIV-1 Vpr.
- Miscellaneous:
-
- The transmembrane helices are not perpendicular to the plane of the membrane, but cross the membrane at an angle. Odd-numbered transmembrane helices exhibit a sharp kink, due to the presence of a conserved proline residue (By similarity).
Protein Expression for SLC25A4 Gene
Post-translational modifications for SLC25A4 Gene
Other Protein References for SLC25A4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for SLC25A4
- Invitrogen Antibodies for SLC25A4
- antibodies-online Antibodies for SLC25A4: See all 26
- GeneTex SLC25A4 antibody for SLC25A4
Protein Products
-
OriGene Purified Proteins for SLC25A4
- Search Origene for MassSpec and Protein Over-expression Lysates for SLC25A4
- Origene Custom Protein Services for SLC25A4
- Search GeneTex for Proteins for SLC25A4
Assay Products
- antibodies-online Kits for SLC25A4: See all 22
No data available for DME Specific Peptides for SLC25A4 Gene
Domains & Families for SLC25A4 Gene
Gene Families for SLC25A4 Gene
Protein Domains for SLC25A4 Gene
Suggested Antigen Peptide Sequences for SLC25A4 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P12235- Family:
-
- Belongs to the mitochondrial carrier (TC 2.A.29) family.
Function for SLC25A4 Gene
Molecular function for SLC25A4 Gene
- UniProtKB/Swiss-Prot Function:
- Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005215 | transporter activity | IEA | -- |
| GO:0005471 | ATP:ADP antiporter activity | IBA | -- |
| GO:0005515 | protein binding | IPI | 16507998 |
| GO:0015207 | adenine transmembrane transporter activity | TAS | 2823266 |
Phenotypes for SLC25A4 Gene
- MGI mutant phenotypes for SLC25A4:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for SLC25A4:
-
- Decreased viability
- Decreased hepcidin::fluc mRNA expression
- Mildly decreased CFP-tsO45G cell surface transport
- Increased shRNA abundance (Z-score > 2)
- Increased transferrin (TF) endocytosis
- Strongly decreased CFP-tsO45G cell surface transport
- Decreased viability after Maraba virus infection
- Decreased shRNA abundance (Z-score < -2)
Animal Models for SLC25A4 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for SLC25A4
-
-
ViGene Biosciences lentiviral particle packaged cDNA for SLC25A4 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SLC25A4 gene
- Search ViGene Biosciences for SLC25A4
CRISPR Products
-
OriGene CRISPR knockouts for SLC25A4
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC25A4
- GenScript: Design CRISPR guide RNA sequences for SLC25A4
miRNA for SLC25A4 Gene
- miRTarBase miRNAs that target SLC25A4
-
- hsa-mir-92b-3p (MIRT040699)
- hsa-mir-331-3p (MIRT043491)
- hsa-let-7b-5p (MIRT051905)
- hsa-mir-6792-3p (MIRT615918)
- hsa-mir-4691-5p (MIRT615919)
- hsa-mir-4775 (MIRT615920)
- hsa-mir-4711-5p (MIRT615921)
- hsa-mir-7112-3p (MIRT615922)
- hsa-mir-4793-5p (MIRT615923)
- hsa-mir-5196-3p (MIRT615924)
- hsa-mir-590-3p (MIRT615925)
miRNA Products
- Search ViGene Biosciences for SLC25A4
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for SLC25A4
- Browse OriGene Inhibitory RNA Products For SLC25A4
-
ViGene Biosciences ready-to-package AAV shRNAs for SLC25A4 gene
Clone Products
-
OriGene ORF clones in human for SLC25A4
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SLC25A4
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for SLC25A4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SLC25A4
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for SLC25A4
-
ViGene Biosciences adenoviral particle packaged cDNA for SLC25A4 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for SLC25A4 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SLC25A4 gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC25A4 Gene
Localization for SLC25A4 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SLC25A4 Gene
- Mitochondrion inner membrane; Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 5 |
| plasma membrane | 4 |
| cytosol | 2 |
| extracellular | 1 |
| peroxisome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA | 21630459 |
| GO:0005739 | mitochondrion | IDA,TAS | 20833797 |
| GO:0005743 | mitochondrial inner membrane | IEA,TAS | -- |
| GO:0005887 | integral component of plasma membrane | TAS | 2823266 |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for SLC25A4 Gene
Pathways by source for SLC25A4 Gene
3 BioSystems pathways for SLC25A4 Gene
11 Reactome pathways for SLC25A4 Gene
1 PharmGKB pathway for SLC25A4 Gene
5 KEGG pathways for SLC25A4 Gene
1 GeneGo (Thomson Reuters) pathway for SLC25A4 Gene
2 Qiagen pathways for SLC25A4 Gene
Interacting Proteins for SLC25A4 Gene
Selected Interacting proteins:
P12235-ADT1_HUMAN
ENSP00000281456
for SLC25A4 Gene via
MINT
STRING
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000002 | mitochondrial genome maintenance | TAS | 10926541 |
| GO:0006091 | generation of precursor metabolites and energy | TAS | 2823266 |
| GO:0006810 | transport | TAS,IEA | 2823266 |
| GO:0008637 | apoptotic mitochondrial changes | IEA | -- |
| GO:0015853 | adenine transport | IEA | -- |
No data available for SIGNOR curated interactions for SLC25A4 Gene
Drugs & Compounds for SLC25A4 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Clodronate | Approved, Investigational, Vet_approved | Pharma | inhibitor, Target | 0 | ||
| Adenosine triphosphate | Approved | Nutra | Target | 0 | ||
| carboxyatractyloside | Experimental | Pharma | Inhibition, Inhibitor, Target | 0 | ||
| [3-(Dodecanoylamino)Propyl](Hydroxy)Dimethylammonium | Experimental | Pharma | Target | 0 | ||
| Cardiolipin | Experimental | Pharma | Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
(1) ApexBio Compounds for SLC25A4 Gene
| Compound | Action | Cas Number |
|---|---|---|
| Atractyloside Dipotassium Salt | ANT inhibitor | 102130-43-8 |
Drug Products
- ApexBio compounds for SLC25A4
Transcripts for SLC25A4 Gene
mRNA/cDNA for SLC25A4 Gene
- (1) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (256) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for SLC25A4 Gene
CRISPR Products
-
OriGene CRISPR knockouts for SLC25A4
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC25A4
- GenScript: Design CRISPR guide RNA sequences for SLC25A4
miRNA Products
- Search ViGene Biosciences for SLC25A4
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for SLC25A4
- Browse OriGene Inhibitory RNA Products For SLC25A4
-
ViGene Biosciences ready-to-package AAV shRNAs for SLC25A4 gene
Clone Products
-
OriGene ORF clones in human for SLC25A4
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SLC25A4
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for SLC25A4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SLC25A4
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
Expression for SLC25A4 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Mature Choroid Plexus Cells Choroid Plexus
-
Epithelial Cells
- Mature Choroid Plexus Cells Choroid Plexus
-
Skeletal Muscle (Muscoskeletal System)
-
Heart (Cardiovascular System)
mRNA differential expression in normal tissues according to GTEx for SLC25A4 Gene
This gene is overexpressed in Heart - Left Ventricle (x15.6), Muscle - Skeletal (x8.6), and Heart - Atrial Appendage (x8.5).
This gene is overexpressed in Heart (32.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC25A4 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of SLC25A4 Gene:
SLC25A4SOURCE GeneReport for Unigene cluster for SLC25A4 Gene:
Hs.246506Evidence on tissue expression from TISSUES for SLC25A4 Gene
- Nervous system(4.9)
- Eye(4.3)
- Liver(4.3)
- Heart(3.8)
- Muscle(3.8)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC25A4 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
Organs:
Head and neck:
- brain
- cerebellum
- cranial nerve
- ear
- eye
- eyelid
- face
- head
- larynx
- mouth
- neck
- pharynx
- pituitary gland
- vocal cord
Thorax:
- breast
- esophagus
- heart
- heart valve
- lung
Abdomen:
- stomach
Pelvis:
- ovary
- penis
- prostate
- testicle
- uterus
- vagina
- vulva
Limb:
- digit
- foot
- lower limb
- upper limb
General:
- hair
- peripheral nerve
- peripheral nervous system
- skin
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for SLC25A4
-
OriGene qPCR primer pairs and template standards for SLC25A4
No data available for mRNA Expression by UniProt/SwissProt for SLC25A4 Gene
Orthologs for SLC25A4 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SLC25A4 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | SLC25A4 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Slc25a4 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Slc25a4 34 16 35 |
|
||
| dog (Canis familiaris) |
Mammalia | SLC25A4 34 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | SLC25A4 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SLC25A4 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | SLC25A4 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | slc25a4 34 |
|
||
| MGC75662 34 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | slc25a4 34 35 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | sesB 36 34 35 |
|
||
| Ant2 36 35 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | ADT2_ANOGA 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | K01H12.2 36 |
|
|
|
| T01B11.4 36 |
|
|
|||
| W02D3.6 36 |
|
|
|||
| ant-1.4 35 |
|
ManyToMany | |||
| C47E12.2 36 |
|
|
|||
| F25B4.7 36 |
|
|
|||
| R07E3.4 36 |
|
|
|||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | AAC1 35 |
|
ManyToMany | |
| AAC3 35 |
|
ManyToMany | |||
| PET9 35 |
|
ManyToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.2354 35 |
|
ManyToMany |
- Species where no ortholog for SLC25A4 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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 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)
Paralogs for SLC25A4 Gene
Variants for SLC25A4 Gene
| SNP ID | Clin | Chr 04 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs104893873 | Pathogenic, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2) [MIM:609283] | 185,144,992(+) | ACTTT(C/G)CTGGT | reference, missense | |
| rs104893874 | Pathogenic, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2) [MIM:609283] | 185,146,939(+) | TATTG(A/G)TGTTG | reference, missense | |
| rs104893876 | Pathogenic, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2) [MIM:609283] | 185,144,945(+) | GCAGC(C/T)CTTCT | reference, missense | |
| rs121912683 | Pathogenic, Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type (MTDPS12B) [MIM:615418] | 185,145,020(+) | GGCCG(A/C)TGGGG | reference, missense | |
| rs28999114 | Pathogenic, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2) [MIM:609283] | 185,144,963(+) | TGTGG(A/G)TCGGC | reference, missense |
Residual Variation Intolerance Score:
29.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.36;
7.85% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for SLC25A4 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC25A4 Gene
Disorders for SLC25A4 Gene
(16) MalaCards diseases for SLC25A4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 |
|
|
| mitochondrial dna depletion syndrome 12 |
|
|
| mitochondrial dna depletion syndrome 12a, cardiomyopathic type |
|
|
| congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome |
|
|
| autosomal dominant progressive external ophthalmoplegia |
|
|
Search SLC25A4 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ADT1_HUMAN- Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type (MTDPS12B) [MIM:615418]: An autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance and, in some patients, muscle weakness and atrophy. Skeletal muscle biopsy shows ragged red fibers, mtDNA depletion, and accumulation of abnormal mitochondria. {ECO:0000269 PubMed:22187496}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2) [MIM:609283]: A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. {ECO:0000269 PubMed:10926541, ECO:0000269 PubMed:11756613, ECO:0000269 PubMed:12112115, ECO:0000269 PubMed:15792871, ECO:0000269 PubMed:18575922}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for SLC25A4
No data available for Genatlas for SLC25A4 Gene
Publications for SLC25A4 Gene
- Novel Twinkle (PEO1) gene mutations in Mendelian progressive external ophthalmoplegia. (PMID: 18575922) Virgilio R. … Comi G.P. (J. Neurol. 2008) 3 4 22 46 64
- A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia. (PMID: 15792871) Deschauer M. … Zierz S. (Neuromuscul. Disord. 2005) 3 4 22 64
- A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family. (PMID: 11756613) Napoli L. … Comi G.P. (Neurology 2001) 3 4 22 64
- Assignment of the human muscle adenine nucleotide translocator gene (ANT1) to 4q35 by fluorescence in situ hybridization. (PMID: 1582253) Fan Y.S. … Lin C.C. (Cytogenet. Cell Genet. 1992) 2 3 22 64
- Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy. (PMID: 22187496) Echaniz-Laguna A. … Mousson de Camaret B. (J. Med. Genet. 2012) 3 4 64
Products for SLC25A4 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
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- Browse Cell Culture Products
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- OriGene Purified Proteins for SLC25A4
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- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for SLC25A4
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- OriGene qPCR primer pairs for SLC25A4
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For SLC25A4
- GenScript: Next-day shipping cDNA ORF clone for SLC25A4 in any vector
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- GenScript: Design CRISPR guide RNA sequences for SLC25A4
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- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
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- Novus Biologicals Antibodies for SLC25A4
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- Invitrogen Antibodies for SLC25A4
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- ApexBio compounds for SLC25A4
- antibodies-online Antibodies for SLC25A4: See all 26
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- Search antibodies-online for proteins
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- GeneTex SLC25A4 antibody for SLC25A4
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- ViGene Biosciences adenoviral particle packaged cDNA for SLC25A4 gene
- ViGene Biosciences lentiviral particle packaged cDNA for SLC25A4 gene
- ViGene Biosciences ready-to-package AAV shRNAs for SLC25A4 gene
- Search ViGene Biosciences for SLC25A4
- Horizon Cell Lines for SLC25A4
- Cyagen custom Knockout/knockin (KOKI) mouse models for SLC25A4
- VectorBuilder custom plasmid, inducible vectors for SLC25A4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SLC25A4
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for SLC25A4 Gene
- (1) GeneCards
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- (68) Abcam
- (69) Novus
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- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
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- (155) Gene ORGANizer