SLC25A25: Solute Carrier Family 25 Member 25
Mitochondrial ATP-Mg/Pi Carrier Protein SLC25A25
Gene Information Card
| Symbol | SLC25A25 |
|---|---|
| Full Name | Solute Carrier Family 25 Member 25 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.11 |
| NCBI Gene ID | 114789 ncbi.nlm.nih.gov/gene/114789 |
| Ensembl ID | ENSG00000148339 |
| UniProt ID | Q6NUK1 |
| OMIM ID | 608745 |
| HGNC ID | 20655 |
| Aliases | SCAMC-3, MCART3, SLC25A25A, SLC25A25B |
Description
SLC25A25 (Solute Carrier Family 25 Member 25) is a protein-coding gene that encodes a mitochondrial ATP-Mg/Pi carrier protein. This carrier is part of the SLC25 family of mitochondrial transporters and mediates the exchange of ATP-Mg with inorganic phosphate across the inner mitochondrial membrane. The protein plays a key role in modulating mitochondrial adenine nucleotide pools and is involved in calcium-dependent mitochondrial metabolism and cellular energy homeostasis. Alternative splicing generates multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex deficiency | Impaired ATP-Mg/Pi transport disrupts mitochondrial energy production | ClinVar, OMIM |
| Hyperinsulinemic hypoglycemia | Altered mitochondrial nucleotide transport affects insulin secretion | ClinVar |
| Type 2 diabetes | Variants in SLC25A25 associated with altered glucose metabolism | NCBI Gene, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.8 | Medium |
| Liver | 8.2 | Medium |
| Brain | 6.1 | Low |
| Kidney | 5.4 | Low |
| Pancreas | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 8.3 | Cervical cancer cell line |
| HepG2 | 7.1 | Hepatocellular carcinoma |
| K562 | 6.5 | Leukemia cell line |
| A549 | 5.8 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.631C>T (p.Arg211Trp) | Missense | <0.01% | Reduced transport activity |
| c.1042G>A (p.Gly348Ser) | Missense | <0.01% | Unknown functional effect |
| c.1255_1257del (p.Lys419del) | In-frame deletion | <0.01% | Altered protein stability |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg211Trp) impair ATP-Mg/Pi exchange, leading to mitochondrial dysfunction.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Mitochondrial calcium ion transport
• Adenine nucleotide transport
• SLC25 family of mitochondrial carriers
Protein Summary
The SLC25A25 protein is a member of the mitochondrial carrier family (SLC25) and is localized to the inner mitochondrial membrane. It functions as an ATP-Mg/Pi antiporter, exchanging ATP-Mg for inorganic phosphate. This activity is critical for maintaining mitochondrial adenine nucleotide pools and is regulated by calcium. The protein contains three tandem repeat domains characteristic of mitochondrial carriers. Alternative splicing produces isoforms with different N-terminal extensions that may affect calcium sensitivity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC25A25 Knockout HEK293 Cell Line | EDJ-KQ7460 | Human | 114789 | Details Get a Quote |
| SLC25A25 Knockout HCT 116 Cell Line | EDJ-KQ31318 | Human | 114789 | Details Get a Quote |
| SLC25A25 Knockout A-549 Cell Line | EDJ-KQ32677 | Human | 114789 | Details Get a Quote |
| SLC25A25 Knockout HeLa Cell Line | EDJ-KQ32678 | Human | 114789 | Details Get a Quote |
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