SLC25A32
Mitochondrial Folate Transporter
Gene Information Card
| Symbol | SLC25A32 |
|---|---|
| Full Name | Solute carrier family 25 member 32 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q22.3 |
| NCBI Gene ID | 81034 ncbi.nlm.nih.gov/gene/81034 |
| Ensembl ID | ENSG00000164933 |
| UniProt ID | Q9H2D1 |
| OMIM ID | 610815 |
| HGNC ID | 29602 |
| Aliases | MFT, MFTC, FLJ13096 |
Description
SLC25A32 encodes the mitochondrial folate transporter (MFT), a member of the SLC25 mitochondrial carrier family. This protein is localized to the inner mitochondrial membrane and mediates the import of folate into the mitochondria, essential for mitochondrial one-carbon metabolism, nucleotide synthesis, and methylation reactions. Mutations in SLC25A32 are associated with cerebral folate deficiency syndrome and neuromuscular disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cerebral folate deficiency | Impaired mitochondrial folate import leads to reduced 5-methyltetrahydrofolate in the CNS | OMIM #610815; ClinVar |
| Combined oxidative phosphorylation deficiency 37 | Defective mitochondrial folate transport disrupts one-carbon metabolism and ATP production | OMIM #619303; ClinVar |
| Riboflavin-responsive exercise intolerance | Secondary mitochondrial dysfunction due to folate deficiency | Case reports; NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Medium |
| Liver | 4.8 | Medium |
| Heart | 3.9 | Low |
| Skeletal muscle | 3.5 | Low |
| Kidney | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 6.1 | Moderate expression |
| HeLa | 5.5 | Moderate expression |
| HepG2 | 4.9 | Moderate expression |
| K562 | 3.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.628C>T (p.Arg210*) | Nonsense | <0.01% | Loss of function; truncated protein |
| c.1007G>A (p.Arg336His) | Missense | <0.01% | Impaired folate transport activity |
| c.1A>G (p.Met1?) | Start loss | <0.01% | No protein synthesis |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent MFT protein, reducing mitochondrial folate uptake.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Folate metabolism (Reactome: R-HSA-196757)
• One-carbon metabolism (KEGG: hsa00670)
• Mitochondrial transport (Reactome: R-HSA-1268020)
Protein Summary
The SLC25A32 protein (MFT) is a 342-amino acid mitochondrial inner membrane carrier with six transmembrane helices. It functions as a homodimer to transport folate and its derivatives into the mitochondrial matrix, providing one-carbon units for the synthesis of purines, thymidylate, and methionine. Defects in MFT cause mitochondrial folate deficiency, leading to impaired oxidative phosphorylation and neurological symptoms.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC25A32 Knockout HEK293 Cell Line | EDJ-KQ51756 | Human | 81034 | Details Get a Quote |
| SLC25A32 Knockout HeLa Cell Line | EDJ-KQ57365 | Human | 81034 | Details Get a Quote |
| SLC25A32 Knockout A-549 Cell Line | EDJ-KQ65871 | Human | 81034 | Details Get a Quote |
| SLC25A32 Knockout HCT 116 Cell Line | EDJ-KQ74298 | Human | 81034 | Details Get a Quote |
