SLC25A1: Mitochondrial Citrate Carrier and Metabolic Disease Gene
Comprehensive genomic, functional, and clinical overview of SLC25A1
Gene Information Card
| Symbol | SLC25A1 |
|---|---|
| Full Name | Solute Carrier Family 25 Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q11.21 |
| NCBI Gene ID | 6576 ncbi.nlm.nih.gov/gene/6576 |
| Ensembl ID | ENSG00000100075 |
| UniProt ID | P53007 |
| OMIM ID | 190315 |
| HGNC ID | 10979 |
| Aliases | CTP, CTP1, SLC20A3, D2HGA |
Description
SLC25A1 encodes the mitochondrial citrate transport protein (CTP), a member of the mitochondrial carrier family. This protein transports citrate across the inner mitochondrial membrane in exchange for malate, playing a key role in the tricarboxylic acid cycle, lipogenesis, and gluconeogenesis. Mutations in SLC25A1 cause combined D-2- and L-2-hydroxyglutaric aciduria (OMIM #615182), a neurometabolic disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined D-2- and L-2-hydroxyglutaric aciduria | Loss of citrate export leads to accumulation of 2-hydroxyglutarate isomers | Multiple case reports, functional studies (PMID: 23352259, 23911353) |
| Congenital myasthenic syndrome | Impaired citrate transport affects acetylcholine synthesis | Rare case reports (PMID: 30548430) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Brain | 8.1 | Medium |
| Heart | 7.3 | Medium |
| Skeletal Muscle | 6.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.3 | Hepatocyte line |
| HEK293 | 11.0 | Embryonic kidney |
| SH-SY5Y | 9.5 | Neuroblastoma |
| K562 | 7.2 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.844C>T (p.Arg282Trp) | Missense | Unknown | Loss of citrate transport activity |
| c.740G>A (p.Arg247Gln) | Missense | Unknown | Reduced protein stability |
| c.293C>T (p.Thr98Ile) | Missense | Unknown | Impaired substrate binding |
Mutation functional classification
Loss of Function (LOF)
Most reported missense mutations reduce or abolish citrate transport, leading to metabolic imbalance.
Gain of Function (GOF)
Not described.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Tricarboxylic acid cycle (KEGG: hsa00020)
• Citrate cycle (Reactome: R-HSA-71403)
• Metabolism of carbohydrates (Reactome: R-HSA-71387)
Protein Summary
The SLC25A1 protein (CTP) is a 311-amino acid transmembrane carrier localized to the mitochondrial inner membrane. It functions as a homodimer, catalyzing the electroneutral exchange of citrate for malate. This export of citrate from mitochondria is essential for cytosolic acetyl-CoA production, fatty acid synthesis, and cholesterol biosynthesis. Structural studies reveal a six-transmembrane helix bundle typical of the SLC25 family.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC25A13 Knockout HEK293 Cell Line | EDJ-KQ2598 | Human | 10165 | Details Get a Quote |
| SLC25A16 Knockout HEK293 Cell Line | EDJ-KQ6161 | Human | 8034 | Details Get a Quote |
| SLC25A12 Knockout HEK293 Cell Line | EDJ-KQ6301 | Human | 8604 | Details Get a Quote |
| SLC25A14 Knockout HEK293 Cell Line | EDJ-KQ6430 | Human | 9016 | Details Get a Quote |
| SLC25A15 Knockout HEK293 Cell Line | EDJ-KQ6929 | Human | 10166 | Details Get a Quote |
| SLC25A17 Knockout HEK293 Cell Line | EDJ-KQ7056 | Human | 10478 | Details Get a Quote |
| SLC25A18 Knockout HEK293 Cell Line | EDJ-KQ9897 | Human | 83733 | Details Get a Quote |
| SLC25A19 Knockout HEK293 Cell Line | EDJ-KQ15308 | Human | 60386 | Details Get a Quote |
| SLC25A14 Knockout A-549 Cell Line | EDJ-KQ29160 | Human | 9016 | Details Get a Quote |
| SLC25A16 Knockout A-549 Cell Line | EDJ-KQ29973 | Human | 8034 | Details Get a Quote |
| SLC25A16 Knockout HCT 116 Cell Line | EDJ-KQ29974 | Human | 8034 | Details Get a Quote |
| SLC25A16 Knockout HeLa Cell Line | EDJ-KQ29975 | Human | 8034 | Details Get a Quote |
| SLC25A12 Knockout A-549 Cell Line | EDJ-KQ30206 | Human | 8604 | Details Get a Quote |
| SLC25A12 Knockout HeLa Cell Line | EDJ-KQ30208 | Human | 8604 | Details Get a Quote |
| SLC25A19 Knockout A-549 Cell Line | EDJ-KQ46006 | Human | 60386 | Details Get a Quote |
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