SLC25A6 (Adenine Nucleotide Translocator 3)
Mitochondrial ADP/ATP carrier involved in energy metabolism and apoptosis
Gene Information Card
| Symbol | SLC25A6 |
|---|---|
| Full Name | Solute Carrier Family 25 Member 6 |
| Gene Type | Protein coding |
| Chromosomal Location | Xp22.32 and Yp11.3 (pseudoautosomal region 1) |
| NCBI Gene ID | 293 ncbi.nlm.nih.gov/gene/293 |
| Ensembl ID | ENSG00000169100 |
| UniProt ID | P12236 |
| OMIM ID | 300151 |
| HGNC ID | 10992 |
| Aliases | ANT3, ANT 3, AAC3, ADT3 |
Description
SLC25A6 encodes the adenine nucleotide translocator 3 (ANT3), a member of the mitochondrial carrier family. ANT3 is located in the inner mitochondrial membrane and catalyzes the exchange of ADP and ATP across the membrane, essential for oxidative phosphorylation. It also participates in the mitochondrial permeability transition pore (mPTP) and apoptosis. The gene resides in the pseudoautosomal region 1 (PAR1) of chromosomes X and Y, escaping X-inactivation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency (unspecified) | Impaired ADP/ATP exchange leads to mitochondrial dysfunction | ClinVar, OMIM |
| Cardiomyopathy, dilated | Altered energy metabolism in cardiac muscle | ClinVar |
| Cancer (various) | Dysregulation of apoptosis via mPTP modulation | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | High |
| Skeletal Muscle | 10.8 | High |
| Liver | 8.2 | Medium |
| Brain | 6.1 | Medium |
| Kidney | 7.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | High expression |
| HEK293 | 13.1 | High expression |
| K562 | 9.8 | Medium expression |
| HepG2 | 11.2 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.238C>T (p.Arg80Trp) | Missense | <0.01% | Unknown significance |
| c.500G>A (p.Arg167His) | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Mutations affecting start codon or critical residues impair ADP/ATP transport, leading to mitochondrial dysfunction.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • ATP:ADP antiporter activity (GO:0005471) | • integral component of membrane (GO:0016021) |
| • mitochondrial inner membrane (GO:0005743) | • mitochondrial transport (GO:0006839) |
| • apoptotic process (GO:0006915) |
Pathways
• Mitochondrial ADP/ATP transport (Reactome: R-HSA-72766)
• Formation of the mitochondrial permeability transition pore (Reactome: R-HSA-111453)
Protein Summary
The SLC25A6 protein (ANT3) is a 298-amino acid transmembrane protein with six alpha-helical domains. It forms homodimers in the inner mitochondrial membrane, functioning as an ADP/ATP exchanger. ANT3 is a core component of the mitochondrial permeability transition pore (mPTP), regulating cell death. It is ubiquitously expressed with highest levels in heart and skeletal muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC25A6 Knockout HEK293 Cell Line | EDJ-KQ1628 | Human | 293 | Details Get a Quote |
| SLC25A6 Knockout A-549 Cell Line | EDJ-KQ21340 | Human | 293 | Details Get a Quote |
| SLC25A6 Knockout HCT 116 Cell Line | EDJ-KQ21341 | Human | 293 | Details Get a Quote |
| SLC25A6 Knockout HeLa Cell Line | EDJ-KQ21342 | Human | 293 | Details Get a Quote |
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