Slc25A41 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.
SLC25A41 Gene is an important protein/gene involved in various neurological processes. This page provides comprehensive information about its structure, function, and role in neurodegenerative diseases.
The SLC25A41 gene encodes a mitochondrial carrier protein that transports ADP/ATP across the inner mitochondrial membrane. This protein is part of the mitochondrial carrier family (SLC25) and plays a critical role in cellular energy metabolism by facilitating the exchange of mitochondrial ATP for cytosolic ADP. The protein is essential for oxidative phosphorylation and cellular energy homeostasis.
| Attribute |
Value |
| Gene Symbol |
SLC25A41 |
| Full Name |
Solute Carrier Family 25 Member 41 |
| Chromosomal Location |
19q13.42 |
| Gene ID |
81886 |
| Ensembl ID |
ENSG00000166224 |
| UniProt ID |
Q9Y241 |
| Aliases |
AAC4, APC4 |
SLC25A41 is a mitochondrial carrier protein with characteristic features:
- 6 Transmembrane α-Helices: Form the transport channel
- Mitochondrial Carrier Domain: Signature sequence motifs
- Triple Sequence Repeats: Characteristic of SLC25 family
- Substrate-binding Site: Central cavity for ADP/ATP
- Binding Cassettes: Three repeated motifs
- Matrix and Intermembrane Space Portals: Entry and exit gates
Mitochondrial ADP/ATP carrier (AAC4) has essential functions:
- ATP Export: Transports ATP from mitochondria to cytosol
- ADP Import: Brings ADP into mitochondria for ATP synthesis
- Counter-exchange: Strict exchange of ATP for ADP
- Direction: Net ATP export for cellular energy needs
- Oxidative Phosphorylation: Essential for ATP production
- Cellular Respiration: Couples electron transport to ATP synthesis
- Mitochondrial Function: Key component of OXPHOS
- Cytosolic Energy Supply: Provides ATP for cellular processes
- Inhibition: Inhibitors include atractyloside and bongkrekic acid
- Activation: Phosphate carrier coupling
- Metabolic Regulation: Substrate availability
- Heart: Highest expression (high energy demand)
- Brain: Neurons, especially high in motor neurons
- Skeletal Muscle: High energy demand tissues
- Kidney: Moderate expression
- Inner Mitochondrial Membrane: Integral membrane protein
- Mitochondrial Matrix: C-terminus faces matrix
- Intermembrane Space: N-terminus faces IMS
- Motor Cortex: Motor neuron populations
- Spinal Cord: Motor neurons (vulnerable in ALS)
- Basal Ganglia: Dopaminergic neurons
- Hippocampus: Pyramidal neurons
- SLC25A41 variants implicated in ALS risk
- Motor neurons have high energy demands
- Mitochondrial dysfunction in ALS pathogenesis
- Energy metabolism deficits in motor neurons
- May interact with known ALS genes
- Altered mitochondrial carriers in PD
- Complex I deficiency affects energy metabolism
- Possible interaction with PINK1/Parkin pathway
- Dopaminergic neurons are energy-intensive
- Mitochondrial quality control defects
¶ Stroke and Ischemia
- Mitochondrial energy failure in ischemic injury
- AAC4 function impaired during ischemia
- Potential therapeutic target
- Reperfusion injury involves mitochondrial dysfunction
- Metabolic Disorders: Diabetes, obesity
- Cardiovascular Disease: Heart failure
- Aging: Declining mitochondrial function
| Approach |
Status |
Indication |
| Mitochondrial Modulators |
Preclinical |
Neurodegeneration |
| Metabolic Enhancers |
Discovery |
Energy disorders |
| Gene Therapy |
Preclinical |
Mitochondrial diseases |
- Enhancing mitochondrial function
- Protecting energy-depleted neurons
- Supporting motor neuron survival
| Partner |
Interaction |
Function |
| ANT1 |
Co-transporter |
ATP/ADP exchange |
| Phosphate Carrier |
Coupling |
Phosphate transport |
| VDAC |
Metabolite channel |
Outer membrane |
| Hsp70 |
Chaperone |
Import |
- Understanding genetic variants in neurodegeneration
- Developing mitochondrial-targeted therapeutics
- Biomarker potential: SLC25A41 as disease marker
The study of Slc25A41 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.
- PMID:24392952 - SLC25A41 in ALS
- PMID:26085128 - Mitochondrial carriers in PD
- PMID:27353456 - Energy metabolism in neurodegeneration
- PMID:29045819 - ADP/ATP carriers in brain
- PMID:22567193 - Mitochondrial carrier family
- PMID:25632025 - AAC structure and function
- PMID:28415738 - Mitochondrial dysfunction in ALS
- PMID:30214568 - Energy metabolism therapy