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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SLC25A48
solute carrier family 25 member 48
Chromosome 5 · 5q31.1
NCBI Gene: 153328Ensembl: ENSG00000145832.16HGNC: HGNC:30451UniProt: J3KQI1
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionmitochondrial inner membranecholine transmembrane transporter activitycholine transporttrauma complicationAbnormality of the gastrointestinal tractrosaceanon-small cell lung carcinoma
✦AI Summary

SLC25A48 is a mitochondrial inner membrane transporter that mediates choline import into the mitochondrial matrix 1. As a member of the SLC25 solute carrier family, SLC25A48 transports the water-soluble, charged choline molecule across the inner mitochondrial membrane, enabling its utilization in downstream metabolic pathways 2. Once imported, mitochondrial choline serves as a substrate for synthesis of betaine and other choline-derived methyl donors required for one-carbon metabolism and purine nucleotide biosynthesis 1. SLC25A48 is essential for maintaining mitochondrial function, including mitochondrial respiration, membrane integrity, and protein synthesis 13. Loss of SLC25A48 function impairs mitochondrial choline import and increases mitochondrial reactive oxygen species production and oxidative stress, resulting in impaired cell proliferation 1. In humans, loss-of-function mutations in SLC25A48 are associated with elevated plasma and urine choline levels, reflecting impaired mitochondrial choline uptake 24. Genome-wide association studies have identified SLC25A48 variants as genetic determinants of circulating choline levels and identified it in epigenomic analyses of Parkinson's disease subtypes 56. These findings suggest SLC25A48 dysfunction may contribute to metabolic and neurological diseases involving choline metabolism.

Sources cited
1
SLC25A48 controls mitochondrial choline import and is required for thermogenesis, respiration, membrane integrity, and synthesis of betaine and nucleotides
PMID: 39111307
2
SLC25A48 identified as genetic determinant of plasma choline via GeneMAP platform; loss impairs mitochondrial choline import and betaine synthesis
PMID: 38977856
3
SLC25A48 imports choline into human mitochondria; loss-of-function mutations impair choline transport and elevate urine and plasma choline
PMID: 39084256
4
SLC25A48 variants influence plasma choline levels; protein localizes to inner mitochondrial membrane
PMID: 39047301
5
SLC25A48 functions as mitochondrial choline transporter; loss-of-function associated with elevated urine and plasma choline
PMID: 39848743
6
SLC25A48 is crucial for mitochondrial translation, oxidative phosphorylation biogenesis, and mitochondrial morphology; stabilized by choline
PMID: 41739937
7
SLC25A48 identified in epigenomic analysis of Parkinson's disease with GBA1 variants
PMID: 41033114
Disease Associationsⓘ20
trauma complicationOpen Targets
0.32Weak
Abnormality of the gastrointestinal tractOpen Targets
0.25Weak
rosaceaOpen Targets
0.16Weak
non-small cell lung carcinomaOpen Targets
0.03Suggestive
cancerOpen Targets
0.02Suggestive
glioblastoma multiformeOpen Targets
0.02Suggestive
clear cell renal carcinomaOpen Targets
0.02Suggestive
papillary thyroid carcinomaOpen Targets
0.01Suggestive
astrocytomaOpen Targets
0.01Suggestive
gliomaOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
osteosarcomaOpen Targets
0.00Suggestive
ovarian cancerOpen Targets
0.00Suggestive
Huntington diseaseOpen Targets
0.00Suggestive
malignant gliomaOpen Targets
0.00Suggestive
obesityOpen Targets
0.00Suggestive
type 1 diabetes mellitusOpen Targets
0.00Suggestive
fatty liver diseaseOpen Targets
0.00Suggestive
Crohn's diseaseOpen Targets
0.00Suggestive
metabolic diseaseOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SLC35G4Shared pathway50%SLC35F4Shared pathway50%SLC25A47Shared pathway50%SLC35F3Shared pathway50%SLC35F5Shared pathway50%SLC35F2Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Liver
10%
Bone Marrow
1%
Ovary
0%
Heart
0%
Lung
0%
Gene Interaction Network
Click a node to explore
SLC25A48SLC35G4SLC35F4SLC25A47SLC35F3SLC35F5SLC35F2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6ZT89
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.21LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.88 [0.66–1.21]
RankingsWhere SLC25A48 stands among ~20K protein-coding genes
  • #14,539of 20,598
    Most Researched19
  • #12,687of 17,882
    Most Constrained (LOEUF)1.21
Genes detectedSLC25A48
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
SLC25A48 controls mitochondrial choline import and metabolism.
PMID: 39111307
Cell Metab · 2024
1.00
2
Metabolic gene function discovery platform GeneMAP identifies SLC25A48 as necessary for mitochondrial choline import.
PMID: 38977856
Nat Genet · 2024
0.90
3
The membrane transporter SLC25A48 enables transport of choline into human mitochondria.
PMID: 39084256
Kidney Int · 2025
0.80
4
Sex-dependent host-microbiome dynamics in zebrafish: Implications for toxicology and gastrointestinal physiology.
PMID: 35533547
Comp Biochem Physiol Part D Genomics Proteomics · 2022
0.70
5
SLC25A48 influences plasma levels of choline and localizes to the inner mitochondrial membrane.
PMID: 39047301
Mol Genet Metab · 2024
0.60