SLC25A48: Solute Carrier Family 25 Member 48
Mitochondrial carrier protein with potential roles in metabolism and disease
Gene Information Card
| Symbol | SLC25A48 |
|---|---|
| Full Name | Solute Carrier Family 25 Member 48 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q31.1 |
| NCBI Gene ID | 100129924 ncbi.nlm.nih.gov/gene/100129924 |
| Ensembl ID | ENSG00000203875 |
| UniProt ID | Q6ZP29 |
| OMIM ID | 616826 |
| HGNC ID | 37299 |
| Aliases | MGC16384, FLJ35779 |
Description
SLC25A48 (Solute Carrier Family 25 Member 48) is a protein-coding gene that encodes a member of the mitochondrial carrier family. The protein is predicted to be localized to the inner mitochondrial membrane and may function in the transport of metabolites across the mitochondrial membrane. Its exact substrate specificity remains under investigation, but it is implicated in cellular metabolism and energy homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Low |
| Thyroid | 8.2 | Low |
| Adrenal gland | 6.1 | Low |
| Brain | 4.3 | Low |
| Liver | 3.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 5.2 | Low expression |
| HeLa | 4.8 | Low expression |
| K562 | 3.1 | Low expression |
| HepG2 | 2.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • integral component of membrane (GO:0016021) |
| • mitochondrial phosphate transmembrane transporter activity (GO:0005315) | • transport (GO:0006810) |
Pathways
• No curated pathways
Protein Summary
The SLC25A48 protein is a member of the SLC25 mitochondrial carrier family. It is predicted to contain three tandem repeat domains characteristic of mitochondrial carriers and is localized to the inner mitochondrial membrane. The protein may function as a transporter for small molecules, but its specific substrate and physiological role remain to be fully elucidated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC25A48 Knockout HEK293 Cell Line | EDJ-KQ11498 | Human | 153328 | Details Get a Quote |
| SLC25A48 Knockout HCT 116 Cell Line | EDJ-KQ39822 | Human | 153328 | Details Get a Quote |
| SLC25A48 Knockout HeLa Cell Line | EDJ-KQ58722 | Human | 153328 | Details Get a Quote |
| SLC25A48 Knockout A-549 Cell Line | EDJ-KQ67205 | Human | 153328 | Details Get a Quote |
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