SLC25A13
Solute Carrier Family 25 Member 13
Gene Information Card
| Symbol | SLC25A13 |
|---|---|
| Full Name | Solute Carrier Family 25 Member 13 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q21.3 |
| NCBI Gene ID | 10165 ncbi.nlm.nih.gov/gene/10165 |
| Ensembl ID | ENSG00000104870 |
| UniProt ID | Q9UJS0 |
| OMIM ID | 603859 |
| HGNC ID | 10983 |
| Aliases | CITRIN, ARALAR2 |
Description
SLC25A13 encodes citrin, a mitochondrial aspartate-glutamate carrier (AGC) that transports aspartate from mitochondria to cytosol in exchange for glutamate and a proton. This protein is essential for the malate-aspartate shuttle, urea cycle, and gluconeogenesis. Mutations cause citrin deficiency, leading to adult-onset type II citrullinemia (CTLN2) and neonatal intrahepatic cholestasis (NICCD).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Citrullinemia type II (CTLN2) | Deficient aspartate export from mitochondria impairs urea cycle, causing hyperammonemia and citrulline accumulation | OMIM #603859, ClinVar |
| Neonatal intrahepatic cholestasis (NICCD) | Reduced aspartate availability disrupts bile acid synthesis and liver function | OMIM #603859, ClinVar |
| Failure to thrive and dyslipidemia | Impaired malate-aspartate shuttle affects energy metabolism and lipid homeostasis | OMIM #603859 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Small intestine | 6.1 | Medium |
| Heart | 4.2 | Low |
| Brain | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.1 | Hepatocyte model |
| HEK293 | 5.4 | Embryonic kidney |
| Caco-2 | 7.8 | Intestinal epithelial |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.851delT | Frameshift | Common in East Asian populations | Loss of function |
| c.1638_1660dup | Duplication | Rare | Loss of function |
| c.IVS11+1G>A | Splice site | Found in CTLN2 patients | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most SLC25A13 mutations result in loss of citrin function, impairing aspartate-glutamate exchange and causing metabolic disorders.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Malate-aspartate shuttle (Reactome R-HSA-70263)
• Urea cycle (Reactome R-HSA-70635)
• Gluconeogenesis (Reactome R-HSA-70263)
Protein Summary
Citrin is a 675-amino acid mitochondrial inner membrane protein with six transmembrane domains. It functions as a calcium-dependent aspartate-glutamate carrier, critical for the malate-aspartate shuttle and urea cycle. Defects lead to citrin deficiency, causing hyperammonemia and liver dysfunction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC25A13 Knockout HEK293 Cell Line | EDJ-KQ2598 | Human | 10165 | Details Get a Quote |
| SLC25A13 Knockout A-549 Cell Line | EDJ-KQ24688 | Human | 10165 | Details Get a Quote |
| SLC25A13 Knockout HCT 116 Cell Line | EDJ-KQ24689 | Human | 10165 | Details Get a Quote |
| SLC25A13 Knockout HeLa Cell Line | EDJ-KQ24690 | Human | 10165 | Details Get a Quote |
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