SLC25A24: Solute Carrier Family 25 Member 24
Mitochondrial ATP-Mg/Pi Carrier Protein SCaMC-1
Gene Information Card
| Symbol | SLC25A24 |
|---|---|
| Full Name | Solute Carrier Family 25 Member 24 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p13.3 |
| NCBI Gene ID | 29957 ncbi.nlm.nih.gov/gene/29957 |
| Ensembl ID | ENSG00000116133 |
| UniProt ID | Q6NUK1 |
| OMIM ID | 608744 |
| HGNC ID | 20662 |
| Aliases | SCaMC-1, SCaMC1, APC2, ATP-Mg/Pi carrier protein 1 |
Description
SLC25A24 encodes a member of the mitochondrial solute carrier family (SLC25). The protein, SCaMC-1, is a calcium-dependent mitochondrial ATP-Mg/Pi carrier that exchanges ATP-Mg for inorganic phosphate across the inner mitochondrial membrane. It plays a key role in modulating mitochondrial adenine nucleotide pools and is involved in cellular energy homeostasis and apoptosis regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | Loss-of-function mutations impair ATP-Mg/Pi exchange, leading to mtDNA depletion and energy deficiency | ClinVar, OMIM |
| Autosomal dominant mitochondrial disease with multiple mtDNA deletions | Dominant-negative mutations disrupt carrier function, causing progressive external ophthalmoplegia and myopathy | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal Muscle | 8.3 | Medium |
| Liver | 6.1 | Low |
| Brain | 4.7 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | High expression |
| HEK293 | 10.8 | Moderate expression |
| HepG2 | 7.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.149G>A (p.Arg50His) | Missense | Rare | Dominant-negative; associated with mtDNA depletion |
| c.650C>T (p.Pro217Leu) | Missense | Rare | Loss of function; reduced ATP-Mg transport |
| c.859G>A (p.Gly287Arg) | Missense | Rare | Dominant-negative; multiple mtDNA deletions |
Mutation functional classification
Loss of Function (LOF)
Homozygous or compound heterozygous missense/nonsense mutations impair carrier activity, leading to mtDNA depletion syndrome.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Heterozygous missense mutations (e.g., p.Arg50His) disrupt carrier oligomerization or function, causing autosomal dominant mitochondrial disease.
View complete mutation data：
Gene Ontology (GO)
| • ATP:inorganic phosphate antiporter activity | • mitochondrial inner membrane |
| • calcium ion binding | • mitochondrial transport |
| • adenine nucleotide transport |
Pathways
• Mitochondrial calcium transport
• Adenine nucleotide translocator pathway
Protein Summary
SCaMC-1 is a 476-amino acid protein with six transmembrane domains, localized to the mitochondrial inner membrane. It mediates electrogenic exchange of ATP-Mg(2-) for Pi(2-) or HPi(2-), regulated by calcium binding to its N-terminal EF-hand domains. The protein is essential for maintaining mitochondrial adenine nucleotide pools and cellular energy balance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC25A24 Knockout HEK293 Cell Line | EDJ-KQ9104 | Human | 29957 | Details Get a Quote |
| SLC25A24 Knockout A-549 Cell Line | EDJ-KQ34356 | Human | 29957 | Details Get a Quote |
| SLC25A24 Knockout HCT 116 Cell Line | EDJ-KQ35606 | Human | 29957 | Details Get a Quote |
| SLC25A24 Knockout HeLa Cell Line | EDJ-KQ35607 | Human | 29957 | Details Get a Quote |
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