SLC25A44
Solute Carrier Family 25 Member 44
Gene Information Card
| Symbol | SLC25A44 |
|---|---|
| Full Name | solute carrier family 25 member 44 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 283232 ncbi.nlm.nih.gov/gene/283232 |
| Ensembl ID | ENSG00000160785 |
| UniProt ID | Q96NT5 |
| OMIM ID | 610826 |
| HGNC ID | 20338 |
| Aliases | MGC12972, FLJ12684 |
Description
SLC25A44 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. It is broadly expressed in various tissues, with highest levels in brain and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease associations currently curated | Not applicable | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Liver | 6.8 | Low |
| Heart | 5.1 | Low |
| Testis | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.0 | Moderate expression |
| HeLa | 6.5 | Moderate expression |
| K562 | 4.2 | Low expression |
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)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • integral component of membrane (GO:0016021) |
| • mitochondrial phosphate transmembrane transporter activity (GO:0005315) | • transmembrane transport (GO:0055085) |
Pathways
• Mitochondrial transport (Reactome: R-HSA-1268020)
Protein Summary
SLC25A44 is a mitochondrial carrier protein that transports solutes across the inner mitochondrial membrane. It is predicted to function in the exchange of metabolites such as phosphate and other anions, contributing to mitochondrial homeostasis. The protein is widely expressed, with highest levels in brain and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC25A44 Knockout HEK293 Cell Line | EDJ-KQ6688 | Human | 9673 | Details Get a Quote |
| SLC25A44 Knockout A-549 Cell Line | EDJ-KQ31027 | Human | 9673 | Details Get a Quote |
| SLC25A44 Knockout HCT 116 Cell Line | EDJ-KQ31028 | Human | 9673 | Details Get a Quote |
| SLC25A44 Knockout HeLa Cell Line | EDJ-KQ31029 | Human | 9673 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
