SLC25A46: Mitochondrial Solute Carrier and Neurodegeneration Gene
A mitochondrial carrier protein implicated in optic atrophy, neuropathy, and mitochondrial dynamics.
Gene Information Card
| Symbol | SLC25A46 |
|---|---|
| Full Name | Solute carrier family 25 member 46 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q22.1 |
| NCBI Gene ID | 283232 ncbi.nlm.nih.gov/gene/283232 |
| Ensembl ID | ENSG00000164209 |
| UniProt ID | Q96AG3 |
| OMIM ID | 610826 |
| HGNC ID | 25198 |
| Aliases | FLJ40443, MGC33414 |
Description
SLC25A46 encodes a mitochondrial inner membrane protein belonging to the SLC25 family of solute carriers. It is involved in mitochondrial lipid transport and cristae maintenance, playing a critical role in mitochondrial dynamics and energy metabolism. Mutations in this gene are associated with a spectrum of neurological disorders, including optic atrophy, peripheral neuropathy, and Leigh syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Optic atrophy 7 (OPA7) | Loss-of-function mutations impair mitochondrial cristae structure and lipid transport, leading to retinal ganglion cell degeneration. | OMIM, ClinVar |
| Charcot-Marie-Tooth disease type 2 (CMT2) | Mutations disrupt mitochondrial dynamics, causing axonal neuropathy. | OMIM, ClinVar |
| Leigh syndrome | Biallelic mutations cause severe mitochondrial dysfunction, leading to encephalopathy. | OMIM, ClinVar |
| Epileptic encephalopathy | Pathogenic variants affect mitochondrial function, contributing to seizures and developmental delay. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Muscle | 5.1 | Low |
| Liver | 4.3 | Low |
| Heart | 6.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 9.5 | High expression relevant to neuronal studies |
| HeLa (cervical carcinoma) | 7.8 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.680A>G (p.Tyr227Cys) | Missense | Rare | Impairs protein stability and mitochondrial localization |
| c.1024C>T (p.Arg342Ter) | Nonsense | Rare | Truncated protein, loss of function |
| c.1123_1124del (p.Leu375fs) | Frameshift | Rare | Premature stop codon, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic mutations are loss-of-function, leading to reduced protein levels or impaired mitochondrial cristae morphology.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by interfering with wild-type protein function, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial inner membrane | • solute:proton antiporter activity |
| • mitochondrial cristae organization | • lipid transport |
Pathways
• Mitochondrial dynamics
• Solute carrier (SLC) transport
Protein Summary
SLC25A46 is a 418-amino acid protein with six transmembrane domains, localized to the mitochondrial inner membrane. It forms homodimers and interacts with mitochondrial contact site and cristae organizing system (MICOS) components, regulating cristae morphology and lipid homeostasis. The protein is ubiquitously expressed, with higher levels in brain and muscle, reflecting its importance in high-energy tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC25A46 Knockout HEK293 Cell Line | EDJ-KQ10704 | Human | 91137 | Details Get a Quote |
| SLC25A46 Knockout A-549 Cell Line | EDJ-KQ38259 | Human | 91137 | Details Get a Quote |
| SLC25A46 Knockout HCT 116 Cell Line | EDJ-KQ38260 | Human | 91137 | Details Get a Quote |
| SLC25A46 Knockout HeLa Cell Line | EDJ-KQ38261 | Human | 91137 | Details Get a Quote |
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