SLC25A30
Solute Carrier Family 25 Member 30
Gene Information Card
| Symbol | SLC25A30 |
|---|---|
| Full Name | Solute Carrier Family 25 Member 30 |
| Gene Type | protein-coding |
| Chromosomal Location | 13q14.11 |
| NCBI Gene ID | 253512 ncbi.nlm.nih.gov/gene/253512 |
| Ensembl ID | ENSG00000174032 |
| UniProt ID | Q5T6F2 |
| OMIM ID | 616157 |
| HGNC ID | 30190 |
| Aliases | MGC129692, MGC129693, FLJ40488 |
Description
SLC25A30 encodes a member of the solute carrier family 25 (mitochondrial carrier) proteins. This protein is localized to the inner mitochondrial membrane and is involved in the transport of metabolites across the mitochondrial membrane. The exact substrate and physiological function remain under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not applicable | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 8.7 | Medium |
| Heart | 5.1 | Low |
| Brain | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.5 | Hepatocyte cell line |
| HEK293 | 6.8 | Embryonic kidney cell line |
| K562 | 2.1 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
Not characterized
Gain of Function (GOF)
Not characterized
Dominant Negative (DN)
Not characterized
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial transport | • transmembrane transport |
| • mitochondrial inner membrane | • integral component of membrane |
Pathways
• Mitochondrial carrier (SLC25) family
Protein Summary
SLC25A30 is a mitochondrial carrier protein located in the inner mitochondrial membrane. It belongs to the SLC25 family of transporters that shuttle metabolites between the cytosol and mitochondrial matrix. Its specific substrate and biological role are not yet fully defined.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC25A30 Knockout HEK293 Cell Line | EDC08114 | Human | 253512 | Details Get a Quote |
| SLC25A30 Knockout A-549 Cell Line | EDJ-KQ40100 | Human | 253512 | Details Get a Quote |
| SLC25A30 Knockout HCT 116 Cell Line | EDJ-KQ40101 | Human | 253512 | Details Get a Quote |
| SLC25A30 Knockout HeLa Cell Line | EDJ-KQ40102 | Human | 253512 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
