HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SLC25A18
solute carrier family 25 member 18
Chromosome 22 · 22q11.21
NCBI Gene: 83733Ensembl: ENSG00000182902.15HGNC: HGNC:10988UniProt: Q9H1K4
36PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionprotein bindingL-glutamate transmembrane transportamino acid:proton symporter activityskin cancerhypertensionblood vessel replacementdiabetic ketoacidosis
✦AI Summary

SLC25A18 is a mitochondrial solute carrier protein responsible for transporting glutamate from the cytosol into the mitochondrial matrix via proton symport 1. This glutamate carrier 2 is essential for providing substrates for mitochondrial bioenergetics 2. Mechanism: SLC25A18 mediates L-glutamate transmembrane transport coupled with proton import, participating in the malate-aspartate shuttle and amino acid metabolism. The protein localizes to the mitochondrial inner membrane 3. Disease Relevance: Increased SLC25A18 expression is associated with Alzheimer's disease pathology. In neuronal cells, elevated SLC25A18 expression following Aβ42 exposure increases mitochondrial superoxide anions while decreasing mitochondrial membrane potential, promoting mitochondrial dysfunction and neuronal apoptosis 3. SLC25A18 has been identified as a genetic risk factor for rheumatoid arthritis 4. Additionally, SLC25A18 amplification within the cat eye syndrome critical region may contribute to congenital anorectal, renal, and preauricular anomalies 56. In hyperargininemia models, genetic inactivation of SLC25A18 suppresses mitochondrial dysfunction caused by arginine accumulation 1. Clinical Significance: SLC25A18 represents a potential therapeutic target for neurodegeneration and inflammatory diseases, though therapeutic strategies remain under investigation.

Sources cited
1
SLC25A18 expression is elevated in Alzheimer's disease; increased expression promotes mitochondrial dysfunction and neuronal apoptosis via Aβ42
PMID: 38871013
2
SLC25A18 is a genetic risk factor causally associated with rheumatoid arthritis
PMID: 40068079
3
SLC25A18 is a strong candidate gene within the cat eye syndrome critical region, implicated in phenotypic features
PMID: 39402511
4
SLC25A18 amplification may cause anorectal, renal, and preauricular anomalies in cat eye syndrome
PMID: 22395867
5
SLC25A18 functions as a mitochondrial glutamate carrier 2, providing substrates for mitochondrial bioenergetics
PMID: 32455435
6
Genetic inactivation of SLC25A18 suppresses mitochondrial defects caused by arginine accumulation in hyperargininemia models
PMID: 32305173
7
SLC25A18 is identified as a signature mitochondria-related diagnostic marker for neutrophilic asthma
PMID: 38294718
8
SLC25A18 is distinct from SLC25A2 in substrate specificity and does not transport ADMA
PMID: 26403849
Disease Associationsⓘ20
skin cancerOpen Targets
0.07Suggestive
hypertensionOpen Targets
0.04Suggestive
blood vessel replacementOpen Targets
0.04Suggestive
diabetic ketoacidosisOpen Targets
0.04Suggestive
medulloblastomaOpen Targets
0.04Suggestive
Alzheimer diseaseOpen Targets
0.03Suggestive
childhood supratentorial ependymomaOpen Targets
0.02Suggestive
psoriasisOpen Targets
0.02Suggestive
large cell medulloblastomaOpen Targets
0.01Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
atypical teratoid rhabdoid tumorOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
rosaceaOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
Acute hepatic failureOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
cat-eye syndromeOpen Targets
0.01Suggestive
Mungan syndromeOpen Targets
0.01Suggestive
astrocytomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SLC25A22Shared pathway86%GCProtein interaction80%ST6GALNAC1Protein interaction80%GUCA1CProtein interaction76%SLC25A12Shared pathway63%SLC25A13Shared pathway42%
Tissue Expression6 tissues
Liver
100%
Brain
25%
Heart
1%
Ovary
1%
Lung
1%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
SLC25A18SLC25A22GCST6GALNAC1GUCA1CSLC25A12SLC25A13
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9H1K4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.14LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.83 [0.62–1.14]
RankingsWhere SLC25A18 stands among ~20K protein-coding genes
  • #10,866of 20,598
    Most Researched36
  • #11,800of 17,882
    Most Constrained (LOEUF)1.14
Genes detectedSLC25A18
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Assessing causality between mitochondrial-associated proteins with musculoskeletal diseases: A Mendelian randomization study.
PMID: 40068079
Medicine (Baltimore) · 2025
1.00
2
Clinical and molecular cytogenetic findings of cat eye syndrome and a 2-year-old patient with congenital aural atresia and hearing loss.
PMID: 39402511
BMC Pediatr · 2024
0.90
3
Increased expression of SLC25A18 is associated with Alzheimer's disease and is involved in Aβ42-induced mitochondrial dysfunction and apoptosis in neuronal cells.
PMID: 38871013
Mitochondrion · 2024
0.80
4
Insight into the role of mitochondrion-related gene anchor signature in mitochondrial dysfunction of neutrophilic asthma.
PMID: 38294718
J Asthma · 2024
0.70
5
Asymmetric dimethylarginine is transported by the mitochondrial carrier SLC25A2.
PMID: 26403849
Amino Acids · 2016
0.60