SLC25A29
Mitochondrial Basic Amino Acid Transporter
Gene Information Card
| Symbol | SLC25A29 |
|---|---|
| Full Name | Solute Carrier Family 25 Member 29 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q32.2 |
| NCBI Gene ID | 123096 ncbi.nlm.nih.gov/gene/123096 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q8N8R3 |
| OMIM ID | 615892 |
| HGNC ID | 20187 |
| Aliases | C14orf69, FLJ38507, MGC10981, ORNT3 |
Description
SLC25A29 (Solute Carrier Family 25 Member 29) is a protein-coding gene located on chromosome 14q32.2. It encodes a mitochondrial carrier protein that transports basic amino acids, including ornithine, arginine, and lysine, across the inner mitochondrial membrane. This transporter is essential for the urea cycle and mitochondrial metabolism. Mutations in SLC25A29 have been associated with mitochondrial disease and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial disease | Impaired transport of basic amino acids into mitochondria leads to metabolic dysfunction | ClinVar, OMIM |
| Hyperornithinemia | Defective ornithine transport disrupts the urea cycle | OMIM #615892 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Heart | 6.1 | Low |
| Brain | 4.7 | Low |
| Skeletal Muscle | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.1 | Hepatocyte model |
| HEK293 | 7.8 | Embryonic kidney |
| K562 | 5.4 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.650G>A (p.Arg217Gln) | Missense | <0.01% | Reduced ornithine transport activity |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations impair or eliminate transporter activity, leading to mitochondrial dysfunction.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Urea cycle and metabolism of arginine
• proline
• glutamate
• aspartate and asparagine
• Mitochondrial amino acid transport
Protein Summary
The SLC25A29 protein is a member of the SLC25 mitochondrial carrier family. It is localized to the inner mitochondrial membrane and functions as a transporter for basic amino acids, particularly ornithine, arginine, and lysine. This activity is critical for the urea cycle and mitochondrial nitrogen metabolism. The protein consists of 277 amino acids and contains three tandem repeat domains characteristic of mitochondrial carriers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC25A29 Knockout HEK293 Cell Line | EDJ-KQ2594 | Human | 123096 | Details Get a Quote |
| SLC25A29 Knockout A-549 Cell Line | EDJ-KQ23287 | Human | 123096 | Details Get a Quote |
| SLC25A29 Knockout HCT 116 Cell Line | EDJ-KQ23288 | Human | 123096 | Details Get a Quote |
| SLC25A29 Knockout HeLa Cell Line | EDJ-KQ23289 | Human | 123096 | Details Get a Quote |
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