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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SLC25A42
solute carrier family 25 member 42
Chromosome 19 Β· 19p13.11
NCBI Gene: 284439Ensembl: ENSG00000181035.15HGNC: HGNC:28380UniProt: Q86VD7
19PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrial inner membraneprotein bindingADP transmembrane transporter activitycoenzyme A transmembrane transporter activitymetabolic crises, recurrent, with variable encephalomyopathic features and neurologic regressionMitochondrial myopathyneurodegenerative diseasegenetic disorder
✦AI Summary

SLC25A42 encodes a mitochondrial carrier protein that mediates the transport of coenzyme A (CoA) across the inner mitochondrial membrane in exchange for intramitochondrial adenine nucleotides and adenosine 3',5'-diphosphate 1. The protein exhibits high transport affinity for CoA, dephospho-CoA, ADP, and adenosine 3',5'-diphosphate through counter-exchange transport mechanisms 1. SLC25A42 is critical for maintaining mitochondrial CoA pools and supporting CoA-dependent pathways including the TCA cycle and fatty acid oxidation 2. The transporter enables spatial regulation of anabolic and catabolic processes by compartmentalizing acyl-CoA metabolism 2. Biallelic pathogenic variants in SLC25A42 cause a mitochondrial disorder characterized by encephalomyopathy with variable severity, including myopathy, developmental delay, lactic acidosis, and metabolic decompensations 34. The disorder shows extremely variable clinical presentation, with some patients experiencing mild symptoms while others suffer metabolic crises with neurological regression 3. Most reported cases involve individuals of Arab descent carrying a founder variant (c.871A>G, p.Asn291Asp) 3. Pantothenic acid administration has shown promise as a therapeutic intervention, leading to clinical stabilization and increased CoA levels in patient fibroblasts 4.

Sources cited
1
SLC25A42 is a mitochondrial transporter for CoA and adenosine 3',5'-diphosphate with specific kinetic properties
PMID: 19429682
2
SLC25A42 is critical for mitochondrial CoA import and supports CoA-dependent metabolic pathways
PMID: 40925986
3
Biallelic pathogenic variants cause mitochondrial disorder with variable encephalomyopathy severity
PMID: 40631575
4
SLC25A42 deficiency causes congenital disease with heterogeneous presentation and pantothenic acid shows therapeutic potential
PMID: 39512436
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regressionOpen Targets
0.73Strong
Mitochondrial myopathyOpen Targets
0.53Moderate
neurodegenerative diseaseOpen Targets
0.43Moderate
genetic disorderOpen Targets
0.34Weak
inborn mitochondrial myopathyOpen Targets
0.27Weak
gastric cancerOpen Targets
0.07Suggestive
azoospermiaOpen Targets
0.07Suggestive
partial chromosome Y deletionOpen Targets
0.05Suggestive
Male infertility with spermatogenesis disorder due to single gene mutationOpen Targets
0.05Suggestive
spermatogenic failure 3Open Targets
0.05Suggestive
spermatogenic failure 55Open Targets
0.05Suggestive
spermatogenic failure 61Open Targets
0.05Suggestive
spermatogenic failure 62Open Targets
0.05Suggestive
spermatogenic failure 88Open Targets
0.05Suggestive
spermatogenic failure 59Open Targets
0.05Suggestive
spermatogenic failure 60Open Targets
0.05Suggestive
spermatogenic failure 73Open Targets
0.05Suggestive
spermatogenic failure 74Open Targets
0.05Suggestive
spermatogenic failure 31Open Targets
0.04Suggestive
spermatogenic failure 53Open Targets
0.04Suggestive
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regressionUniProt
Pathogenic Variants4
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp)Pathogenic
Inborn mitochondrial myopathy|Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression|SLC25A42-related mitochondrial disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 291
NM_178526.5(SLC25A42):c.623_624del (p.Thr207_Tyr208insTer)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2022β†’ Residue 207
NM_178526.5(SLC25A42):c.380+2T>APathogenic
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression
β˜…β˜†β˜†β˜†2019
NM_178526.5(SLC25A42):c.309C>G (p.Tyr103Ter)Likely pathogenic
SLC25A42-related mitochondrial encephalomyopathy
β˜…β˜†β˜†β˜†2018β†’ Residue 103
View on ClinVar β†—
Related Genes
TYMSProtein interaction98%PCNAProtein interaction93%RPL18Protein interaction90%RFC3Protein interaction75%SLC35B1Shared pathway67%SLC25A25Shared pathway67%
Tissue Expression6 tissues
Liver
100%
Ovary
25%
Heart
17%
Bone Marrow
14%
Lung
10%
Brain
6%
Gene Interaction Network
Click a node to explore
SLC25A42TYMSPCNARPL18RFC3SLC35B1SLC25A25
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q86VD7
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.87LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.59 [0.41–0.87]
RankingsWhere SLC25A42 stands among ~20K protein-coding genes
  • #14,538of 20,598
    Most Researched19
  • #3,862of 5,498
    Most Pathogenic Variants4
  • #7,643of 17,882
    Most Constrained (LOEUF)0.87
Genes detectedSLC25A42
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
1.00
2
Autozygome and high throughput confirmation of disease genes candidacy.
PMID: 30237576
Genet Med Β· 2019
0.90
3
SLC25A42 promotes gastric cancer growth by conferring ferroptosis resistance through enhancing CPT2-mediated fatty acid oxidation.
PMID: 40246810
Cell Death Dis Β· 2025
0.80
4
Identification of Mitochondrial and Succinylation Modification-Related Gene Signature in Ischemic Stroke.
PMID: 40261608
Mol Neurobiol Β· 2025
0.70
5
SLC25A42-Related Mitochondrial Disorder: New Cases and Literature Review.
PMID: 40631575
Clin Genet Β· 2026
0.60