SLC25A43: Solute Carrier Family 25 Member 43
Mitochondrial carrier protein with potential roles in cancer and metabolism
Gene Information Card
| Symbol | SLC25A43 |
|---|---|
| Full Name | Solute Carrier Family 25 Member 43 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq22.1 |
| NCBI Gene ID | 203427 ncbi.nlm.nih.gov/gene/203427 |
| Ensembl ID | ENSG00000101940 |
| UniProt ID | Q8N8S7 |
| OMIM ID | 300776 |
| HGNC ID | 26086 |
| Aliases | MGC26594 |
Description
SLC25A43 encodes a member of the SLC25 mitochondrial carrier family. The protein is localized to the inner mitochondrial membrane and is involved in the transport of metabolites. Expression is altered in certain cancers, suggesting a role in tumor biology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered expression; potential tumor suppressor role | Expression profiling studies (PMID: 21779511) |
| Prostate cancer | Downregulation observed in metastatic samples | Gene expression microarray data (COSMIC) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Lymph node | 3.8 | Low |
| Breast | 2.1 | Low |
| Prostate | 1.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 2.5 | Low expression |
| PC3 (prostate cancer) | 1.8 | Low expression |
| HEK293 (embryonic kidney) | 3.0 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown |
| c.100C>T | Nonsense | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations may lead to truncated protein and loss of transport function.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Not described.
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
• Transport of small molecules (Reactome: R-HSA-382551)
Protein Summary
SLC25A43 is a 298-amino acid mitochondrial carrier protein with three tandem repeat domains characteristic of the SLC25 family. It is predicted to transport solutes across the inner mitochondrial membrane, though its specific substrate remains unknown.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC25A43 Knockout HEK293 Cell Line | EDJ-KQ5532 | Human | 203427 | Details Get a Quote |
| SLC25A43 Knockout A-549 Cell Line | EDJ-KQ28781 | Human | 203427 | Details Get a Quote |
| SLC25A43 Knockout HCT 116 Cell Line | EDJ-KQ28782 | Human | 203427 | Details Get a Quote |
| SLC25A43 Knockout HeLa Cell Line | EDJ-KQ28783 | Human | 203427 | Details Get a Quote |
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