Slc25A4 Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Slc25A4 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes. [1]
SLC25A4 (Solute Carrier Family 25 Member 4, also known as ANT1) encodes a mitochondrial ADP/ATP translocase that exchanges ADP and ATP across the inner mitochondrial membrane. [3]
| Attribute | Value | [4]
|-----------|-------| [5]
| Gene Symbol | SLC25A4 | [6]
| Full Name | Solute Carrier Family 25 Member 4 | [7]
| Chromosomal Location | 4q34.3 |
| NCBI Gene ID | 291 |
| OMIM | 103220 |
| Ensembl ID | ENSG00000151729 |
| UniProt ID | P12235 |
SLC25A4 (ANT1) is a mitochondrial carrier protein that exchanges mitochondrial ATP for cytosolic ADP.
| Disease | Mutation Type | Inheritance | Notes |
|---|---|---|---|
| Mitochondrial Myopathy | Dominant | Autosomal | Exercise intolerance, muscle weakness |
| Progressive External Ophthalmoplegia | Dominant | Autosomal | PEO with mtDNA deletions |
Expressed in:
Slc25A4 Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
The study of Slc25A4 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
Palmieri F. The mitochondrial transporter family (SLC25): physiological and pathological implications. Pflugers Arch. 2004. ↩︎
Brower JV, Rodic N, Liu T, et al. Mitochondrial DNA mutations in ANT1 in patients with mitochondrial disorders. Neurology. 2003. ↩︎
Kaukonen J, Juselius JK, Tiranti V, et al. Role of adenine nucleotide translocator 1 (ANT1) in mitochondrial DNA disease. Lancet. 2000. ↩︎
Fiore C, Trézéguet V, Le Saux A, et al. The mitochondrial ADP/ATP carrier: structural, physiological and pathological aspects. Biochimie. 1998. ↩︎
Ho L, Y有多少on G, Sharma A, et al. Mitochondrial ATP synthase and adenine nucleotide translocator in Alzheimer's disease. Brain Res Mol Brain Res. 2001. ↩︎
Schon EA, Santra S, Hirano M. Mitochondrial disorders. Curr Neurol Neurosci Rep. 2002. ↩︎
Elorza AA, Soffia JP. MtDNA replication in mammalian cells: overview of the pathway. Gene. 2002. ↩︎