SLC25A42
Mitochondrial CoA Transporter Gene
Gene Information Card
| Symbol | SLC25A42 |
|---|---|
| Full Name | Solute Carrier Family 25 Member 42 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.11 |
| NCBI Gene ID | 284439 ncbi.nlm.nih.gov/gene/284439 |
| Ensembl ID | ENSG00000181035 |
| UniProt ID | Q86VD7 |
| OMIM ID | 610826 |
| HGNC ID | 28398 |
| Aliases | MGC13170, FLJ14281 |
Description
SLC25A42 encodes a member of the mitochondrial solute carrier family. This protein is a mitochondrial transporter for coenzyme A (CoA) and adenosine 3',5'-diphosphate (PAP), essential for mitochondrial metabolism and energy production.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial CoA deficiency | Impaired CoA transport into mitochondria | ClinVar: pathogenic variants associated with mitochondrial disease |
| Combined oxidative phosphorylation deficiency | Disrupted mitochondrial CoA import leads to energy metabolism defects | OMIM: 610826 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Heart | 10.2 | Medium |
| Skeletal Muscle | 8.9 | Medium |
| Kidney | 7.3 | Low |
| Brain | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.0 | High expression |
| K562 | 9.5 | Medium expression |
| HeLa | 7.8 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.475C>T (p.Arg159Trp) | Missense | <0.01% | Loss of CoA transport function |
| c.740G>A (p.Arg247Gln) | Missense | <0.01% | Reduced mitochondrial CoA uptake |
Mutation functional classification
Loss of Function (LOF)
Missense variants impair CoA transport, leading to mitochondrial dysfunction.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • CoA transmembrane transporter activity | • mitochondrial transport |
| • mitochondrial inner membrane | • coenzyme A metabolic process |
Pathways
• Mitochondrial CoA transport
• Metabolism
Protein Summary
SLC25A42 is a 318-amino acid mitochondrial inner membrane protein that transports CoA and PAP into the mitochondrial matrix. It is critical for fatty acid oxidation, the TCA cycle, and other mitochondrial metabolic pathways.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC25A42 Knockout HEK293 Cell Line | EDJ-KQ2661 | Human | 284439 | Details Get a Quote |
| SLC25A42 Knockout HCT 116 Cell Line | EDJ-KQ23444 | Human | 284439 | Details Get a Quote |
| SLC25A42 Knockout HeLa Cell Line | EDJ-KQ23445 | Human | 284439 | Details Get a Quote |
| SLC25A42 Knockout A-549 Cell Line | EDJ-KQ67935 | Human | 284439 | Details Get a Quote |
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