SLC25A41: Solute Carrier Family 25 Member 41
Mitochondrial carrier protein involved in calcium and nucleotide transport
Gene Information Card
| Symbol | SLC25A41 |
|---|---|
| Full Name | Solute Carrier Family 25 Member 41 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 284427 ncbi.nlm.nih.gov/gene/284427 |
| Ensembl ID | ENSG00000181240 |
| UniProt ID | Q8N5S1 |
| OMIM ID | 610826 |
| HGNC ID | 28513 |
| Aliases | MGC13170, SCaMC-3L, APC2 |
Description
SLC25A41 encodes a member of the mitochondrial carrier family (SLC25) that transports calcium and nucleotides across the inner mitochondrial membrane. It is involved in mitochondrial calcium homeostasis and energy metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial disease (general) | Impaired calcium/nucleotide transport leads to mitochondrial dysfunction | Inferred from function; no specific OMIM disease entry |
| Cancer (potential) | Altered expression may affect mitochondrial metabolism | Limited evidence from COSMIC somatic mutations |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Liver | 8.7 | Low |
| Kidney | 6.5 | Low |
| Heart | 4.2 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | Moderate expression |
| HepG2 | 10.5 | Moderate expression |
| K562 | 3.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Predicted for truncating or start-loss variants
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
Pathways
• Mitochondrial calcium transport (Reactome: R-HSA-8949215)
• SLC-mediated transmembrane transport (Reactome: R-HSA-425374)
Protein Summary
SLC25A41 is a mitochondrial inner membrane protein that functions as a calcium-dependent antiporter, exchanging cytosolic calcium for mitochondrial nucleotides. It plays a role in regulating mitochondrial calcium uptake and energy metabolism. The protein is predominantly expressed in testis and liver.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC25A41 Knockout HEK293 Cell Line | EDJ-KQ15315 | Human | 284427 | Details Get a Quote |
| SLC25A41 Knockout HeLa Cell Line | EDJ-KQ59468 | Human | 284427 | Details Get a Quote |
| SLC25A41 Knockout A-549 Cell Line | EDJ-KQ67931 | Human | 284427 | Details Get a Quote |
| SLC25A41 Knockout HCT 116 Cell Line | EDJ-KQ76313 | Human | 284427 | Details Get a Quote |
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