SLC25A26
Solute Carrier Family 25 Member 26
Gene Information Card
| Symbol | SLC25A26 |
|---|---|
| Full Name | Solute Carrier Family 25 Member 26 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p14.1 |
| NCBI Gene ID | 115286 ncbi.nlm.nih.gov/gene/115286 |
| Ensembl ID | ENSG00000144713 |
| UniProt ID | Q70HW3 |
| OMIM ID | 611037 |
| HGNC ID | 20698 |
| Aliases | SAMC, APC2, FLJ20516 |
Description
SLC25A26 encodes a mitochondrial carrier protein that transports S-adenosylmethionine (SAM) from the cytosol into the mitochondrial matrix. SAM is the primary methyl donor in numerous cellular methylation reactions, including those affecting mitochondrial DNA, RNA, and proteins. The protein is essential for mitochondrial function and cellular energy metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency 28 | Deficient mitochondrial SAM import impairs methylation of mitochondrial tRNA and respiratory chain subunits, leading to OXPHOS dysfunction | OMIM #616794; biallelic pathogenic variants in SLC25A26 |
| Mitochondrial myopathy with lactic acidosis | Impaired SAM transport disrupts mitochondrial protein synthesis and ATP production | Case reports in ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 8.2 | Medium |
| Heart | 6.5 | Medium |
| Skeletal Muscle | 5.1 | Low |
| Kidney | 4.8 | Low |
| Brain | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 7.1 | Hepatocellular carcinoma |
| K-562 | 5.3 | Myelogenous leukemia |
| HeLa | 4.6 | Cervical adenocarcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.158G>A (p.Arg53His) | Missense | Rare | Reduced SAM transport activity; associated with combined oxidative phosphorylation deficiency |
| c.334C>T (p.Arg112Trp) | Missense | Rare | Impaired protein stability and function |
| c.589C>T (p.Arg197*) | Nonsense | Rare | Loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense variants that reduce or abolish SAM transport activity, leading to mitochondrial dysfunction.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • S-adenosylmethionine transmembrane transporter activity (GO:0005476) | • integral component of membrane (GO:0016021) |
| • mitochondrial inner membrane (GO:0005743) | • S-adenosylmethionine transport (GO:0032977) |
| • mitochondrial membrane (GO:0031966) |
Pathways
• Mitochondrial SAM transport
• One-carbon metabolism
Protein Summary
SLC25A26 is a 277-amino acid mitochondrial inner membrane protein belonging to the SLC25 family of solute carriers. It functions as a specific transporter for S-adenosylmethionine (SAM), importing SAM into the mitochondrial matrix. This transport is critical for methylation reactions within mitochondria, including modification of mitochondrial tRNAs and components of the respiratory chain. Defects in SLC25A26 cause combined oxidative phosphorylation deficiency type 28, characterized by mitochondrial myopathy, lactic acidosis, and failure to thrive.
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