SLC25A45
Solute Carrier Family 25 Member 45
Gene Information Card
| Symbol | SLC25A45 |
|---|---|
| Full Name | Solute Carrier Family 25 Member 45 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 283130 ncbi.nlm.nih.gov/gene/283130 |
| Ensembl ID | ENSG00000162241 |
| UniProt ID | Q8N8U9 |
| OMIM ID | 616826 |
| HGNC ID | 28473 |
| Aliases | MGC141976, MGC141977 |
Description
SLC25A45 encodes a member of the SLC25 family of mitochondrial carrier proteins. These proteins transport various metabolites across the inner mitochondrial membrane. SLC25A45 is predicted to be involved in mitochondrial transport processes, though its specific substrate and full physiological role remain under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Thyroid | 3.1 | Low |
| Adrenal gland | 2.8 | Low |
| Prostate | 2.5 | Low |
| Liver | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 3.0 | Low expression |
| HeLa | 2.5 | Low expression |
| K-562 | 2.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function mutations in ClinVar or COSMIC.
Gain of Function (GOF)
No documented gain-of-function mutations.
Dominant Negative (DN)
No documented dominant-negative mutations.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • integral component of membrane (GO:0016021) |
| • transmembrane transporter activity (GO:0022857) | • transmembrane transport (GO:0055085) |
Protein Summary
SLC25A45 is a mitochondrial carrier protein with a predicted molecular weight of approximately 34 kDa. It contains three tandem repeats of a characteristic mitochondrial carrier domain. The protein is localized to the inner mitochondrial membrane and is thought to transport small molecules, though its exact substrate is unknown.
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