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 bee... See more...

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
  • ADP/ATP Translocase 1 3 4
  • ANT 1 3 4
  • ANT1 3 4
  • T1 2 3
  • 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
  • MTDPS12A 3
  • MTDPS12 3
  • SLC25A4 5
  • PEOA2 3
  • AAC1 3
  • PEO2 3
  • PEO3 3
  • ANT 3

External Ids for SLC25A4 Gene

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

Entrez Gene Summary 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 12A , Autosomal Dominant. Among its related pathways are Pathways of neurodegeneration - multiple diseases and Mitochondrial protein import. Gene Ontology (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 Summary for SLC25A4 Gene

  • Involved in mitochondrial ADP/ATP transport. Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane.

Gene Wiki entry for SLC25A4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC25A4 Gene

Genomics for SLC25A4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC25A4 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
GH04J185142 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 257.1 +1.3 1298 4.9 SP1 ZNF207 MYC ZNF600 ZNF592 POLR2A CEBPA BRCA1 NFIC ZIC2 SLC25A4 HSALNG0039079 PRIMPOL HELT CFAP97 SNX25
GH04J185118 Enhancer 0.9 Ensembl dbSUPER 18.5 -23.3 -23266 2 IKZF1 ZNF592 ARNT ZNF316 NFE2 PRDM10 RAD51 MAFG EGR1 MAFK HSALNG0039077 SLC25A4 HELT ENSG00000287183 KY994054-048 HSALNG0039076 HSALNG0039075
GH04J185115 Enhancer 1.2 Ensembl ENCODE dbSUPER 12.3 -27.3 -27322 1.1 IKZF1 MYC ZNF592 NFIC POLR2A YY1 TBP MNT TAF9B SP2 SLC25A4 HELT KY994054-048 HSALNG0039075 HSALNG0039077 LINC02436
GH04J185106 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.9 -33.0 -32957 8.2 NCOR1 IKZF1 JUND YY1 REST FOXA2 RXRA ZBTB33 TBP FOSL2 HSALNG0039075 KY994054-048 SLC25A4 HELT LINC02436 HSALNG0039071-001
GH04J185117 Enhancer 0.6 dbSUPER 12.3 -25.7 -25740 0.5 ZNF592 ZNF316 NFE2 TAL1 MAFG ZEB2 TCF12 GLIS1 ZBTB40 HDAC1 SLC25A4 HELT HSALNG0039077 KY994054-048 HSALNG0039075
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC25A4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC25A4

Top Transcription factor binding sites by QIAGEN in the SLC25A4 gene promoter:
  • AML1a
  • c-Myc
  • CUTL1
  • Max1
  • Pax-5
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • Zic3

Genomic Locations for SLC25A4 Gene

Latest Assembly
chr4:185,143,266-185,150,382
(GRCh38/hg38)
Size:
7,117 bases
Orientation:
Plus strand

Previous Assembly
chr4:186,064,420-186,071,536
(GRCh37/hg19 by Entrez Gene)
Size:
7,117 bases
Orientation:
Plus strand

chr4:186,064,395-186,071,536
(GRCh37/hg19 by Ensembl)
Size:
7,142 bases
Orientation:
Plus strand

Genomic View for SLC25A4 Gene

Genes around SLC25A4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC25A4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC25A4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • D3DP59

    Protein attributes for SLC25A4 Gene

    Size:
    298 amino acids
    Molecular mass:
    33064 Da
    Quaternary structure:
    • Homodimer (By similarity). Found in a complex with ARL2, ARL2BP and SLC25A4 (By similarity). Interacts with ARL2BP (By similarity).
    • (Microbial infection) Interacts with HIV-1 Vpr.

neXtProt entry for SLC25A4 Gene

Post-translational modifications for SLC25A4 Gene

  • Ubiquitination at Lys43 and Lys63
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC25A4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC25A4 Gene

Domains & Families for SLC25A4 Gene

Gene Families for SLC25A4 Gene

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

Protein Domains for SLC25A4 Gene

InterPro:
Blocks:
  • Mitochondrial carrier protein signature
  • Adenine nucleotide translocator 1 signature

Suggested Antigen Peptide Sequences for SLC25A4 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 25 member 4 (ADT1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P12235

UniProtKB/Swiss-Prot:

ADT1_HUMAN :
  • 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.
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
Domain:
  • 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.
Family:
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
genes like me logo Genes that share domains with SLC25A4: view

Function for SLC25A4 Gene

Molecular function for SLC25A4 Gene

UniProtKB/Swiss-Prot Function:
Involved in mitochondrial ADP/ATP transport. Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane.

Phenotypes From GWAS Catalog for SLC25A4 Gene

Gene Ontology (GO) - Molecular Function for SLC25A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005347 ATP transmembrane transporter activity IEA --
GO:0005471 ATP:ADP antiporter activity IEA --
GO:0005515 protein binding IPI 16507998
GO:0015207 adenine transmembrane transporter activity TAS 2823266
GO:0022857 transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SLC25A4: view
genes like me logo Genes that share phenotypes with SLC25A4: view

Human Phenotype Ontology for SLC25A4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC25A4 Gene

MGI Knock Outs for SLC25A4:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC25A4

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. Membrane. Note=The complex formed with ARL2BP, ARL2 and SLC25A4 is expressed in mitochondria (By similarity). May localize to non-mitochondrial membranes (PubMed:27641616). {ECO:0000250 UniProtKB:P48962, ECO:0000269 PubMed:27641616}.

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 SLC25A4 gene
Compartment Confidence
mitochondrion 5
plasma membrane 4
nucleus 2
cytosol 2
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SLC25A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion TAS,IDA --
GO:0005743 mitochondrial inner membrane IEA,TAS --
GO:0005887 integral component of plasma membrane TAS 2823266
GO:0016020 membrane IEA,IDA 27641616
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC25A4: view

Pathways & Interactions for SLC25A4 Gene

genes like me logo Genes that share pathways with SLC25A4: view

Pathways by source for SLC25A4 Gene

1 GeneGo (Thomson Reuters) pathway for SLC25A4 Gene
  • Apoptosis and survival_Regulation of Apoptosis by Mitochondrial Proteins
2 Qiagen pathways for SLC25A4 Gene
  • Cellular Apoptosis Pathway
  • Mitochondrial Apoptosis

SIGNOR curated interactions for SLC25A4 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for SLC25A4 Gene

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:0008637 apoptotic mitochondrial changes IEA --
GO:0015853 adenine transport IEA --
GO:0015866 ADP transport IMP 27693233
genes like me logo Genes that share ontologies with SLC25A4: view

Drugs & Compounds for SLC25A4 Gene

(13) Drugs for SLC25A4 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Clodronate Approved, Investigational, Vet_approved Pharma Target, inhibitor 12
Etidronic acid Approved Pharma Target, inhibitor 37
carboxyatractyloside Experimental Pharma Inhibitor, Inhibition, Target 0
[3-(Dodecanoylamino)Propyl](Hydroxy)Dimethylammonium Experimental Pharma Target 0
Di-Stearoyl-3-Sn-Phosphatidylcholine Experimental Pharma Target 0

(10) Additional Compounds for SLC25A4 Gene - From: Novoseek

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
genes like me logo Genes that share compounds with SLC25A4: view

Drug products for research

Transcripts for SLC25A4 Gene

mRNA/cDNA for SLC25A4 Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC25A4

Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A4 Gene

No ASD Table

Relevant External Links for SLC25A4 Gene

GeneLoc Exon Structure for
SLC25A4

Expression for SLC25A4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC25A4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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).

Protein differential expression in normal tissues from HIPED for SLC25A4 Gene

This gene is overexpressed in Heart (32.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC25A4 Gene



Protein tissue co-expression partners for SLC25A4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC25A4

SOURCE GeneReport for Unigene cluster for SLC25A4 Gene:

Hs.246506

mRNA Expression by UniProt/SwissProt for SLC25A4 Gene:

P12235-ADT1_HUMAN
Tissue specificity: Expressed in erythrocytes (at protein level).

Evidence on tissue expression from TISSUES for SLC25A4 Gene

  • Nervous system(4.9)
  • Heart(4.9)
  • Liver(4.5)
  • Eye(4.4)
  • Muscle(3.8)
  • Kidney(2.6)
  • Stomach(2.3)
  • Thyroid gland(2.1)

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
Regions:
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
genes like me logo Genes that share expression patterns with SLC25A4: view

Primer products for research

Orthologs for SLC25A4 Gene

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

Orthologs for SLC25A4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC25A4 29 30
  • 97.43 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC25A4 29 30
  • 92.73 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc25a4 29
  • 91.72 (n)
Mouse
(Mus musculus)
Mammalia Slc25a4 29 16 30
  • 91.28 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC25A4 29 30
  • 90.38 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SLC25A4 30
  • 88 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SLC25A4 29 30
  • 83.45 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SLC25A4 30
  • 90 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc25a4 29
  • 79.64 (n)
MGC75662 29
Zebrafish
(Danio rerio)
Actinopterygii slc25a4 29 30
  • 77.52 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta sesB 29 30 31
  • 74 (n)
ManyToMany
Ant2 30 31
  • 72 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta ADT2_ANOGA 29
  • 72.76 (n)
Worm
(Caenorhabditis elegans)
Secernentea K01H12.2 31
  • 69 (a)
T01B11.4 31
  • 69 (a)
ant-1.4 30
  • 65 (a)
ManyToMany
W02D3.6 31
  • 65 (a)
C47E12.2 31
  • 50 (a)
F25B4.7 31
  • 47 (a)
R07E3.4 31
  • 44 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AAC1 30
  • 51 (a)
ManyToMany
AAC3 30
  • 50 (a)
ManyToMany
PET9 30
  • 49 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2354 30
  • 52 (a)
ManyToMany
Species where no ortholog for SLC25A4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)

Evolution for SLC25A4 Gene

ENSEMBL:
Gene Tree for SLC25A4 (if available)
TreeFam:
Gene Tree for SLC25A4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC25A4: view image
Alliance of Genome Resources:
Additional Orthologs for SLC25A4

Paralogs for SLC25A4 Gene

Variants for SLC25A4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC25A4 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
1033744 Uncertain Significance: Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant 185,146,948(+) G/C
NM_001151.4(SLC25A4):c.874G>C (p.Asp292His)
MISSENSE
900372 Uncertain Significance: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 185,147,122(+) T/C
NM_001151.4(SLC25A4):c.*151T>C
THREE_PRIME_UTR
900373 Benign: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 185,147,248(+) C/T
NM_001151.4(SLC25A4):c.*277C>T
THREE_PRIME_UTR
900374 Uncertain Significance: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 185,147,419(+) G/A
NM_001151.4(SLC25A4):c.*448G>A
THREE_PRIME_UTR
900375 Uncertain Significance: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 185,147,453(+) G/C
NM_001151.4(SLC25A4):c.*482G>C
THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SLC25A4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SLC25A4 Gene

Variant ID Type Subtype PubMed ID
nsv1073398 CNV deletion 25765185
nsv461859 CNV loss 19166990
nsv596369 CNV loss 21841781

Variation tolerance for SLC25A4 Gene

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)

Additional Variant Information for SLC25A4 Gene

Human Gene Mutation Database (HGMD)
SLC25A4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC25A4
Leiden Open Variation Database (LOVD)
SLC25A4

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC25A4 Gene

Disorders for SLC25A4 Gene

MalaCards: The human disease database

(37) MalaCards diseases for SLC25A4 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ADT1_HUMAN
  • 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:12707443, ECO:0000269 PubMed:15792871, ECO:0000269 PubMed:18575922, ECO:0000269 PubMed:27693233}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • 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:16155110, ECO:0000269 PubMed:22187496, ECO:0000269 PubMed:25732997, ECO:0000269 PubMed:27693233}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type (MTDPS12A) [MIM:617184]: An autosomal dominant mitochondrial disorder characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth. Affected infants have respiratory insufficiency requiring mechanical ventilation and have poor or no motor development. Many die in infancy, and those that survive have profound hypotonia with significant muscle weakness and inability to walk independently. Some patients develop hypertrophic cardiomyopathy. Muscle samples show mtDNA depletion and severe combined mitochondrial respiratory chain deficiencies. {ECO:0000269 PubMed:27693233}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for SLC25A4

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SLC25A4: view

No data available for Genatlas for SLC25A4 Gene

Publications for SLC25A4 Gene

  1. Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia. (PMID: 18575922) Virgilio R … Comi GP (Journal of neurology 2008) 3 4 22 40
  2. Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number. (PMID: 27693233) Thompson K … Taylor RW (American journal of human genetics 2016) 3 4 72
  3. Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy. (PMID: 22187496) Echaniz-Laguna A … Mousson de Camaret B (Journal of medical genetics 2012) 3 4 72
  4. A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia. (PMID: 15792871) Deschauer M … Zierz S (Neuromuscular disorders : NMD 2005) 3 4 22
  5. Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy. (PMID: 16155110) Palmieri L … Zeviani M (Human molecular genetics 2005) 3 4 72

Products for SLC25A4 Gene

Sources for SLC25A4 Gene