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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SLC25A32
solute carrier family 25 member 32
Chromosome 8 · 8q22.3
NCBI Gene: 81034Ensembl: ENSG00000164933.13HGNC: HGNC:29683UniProt: Q9H2D1
33PubMed Papers
22Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrial inner membraneFAD transmembrane transporter activitymitochondrionmitochondrial FAD transmembrane transportexercise intolerance, riboflavin-responsivespina bifidamultiple acyl-CoA dehydrogenase deficiency, mild typeneurodegenerative disease
✦AI Summary

SLC25A32 is a mitochondrial inner membrane transporter that facilitates flavin adenine dinucleotide (FAD) and folate translocation into the mitochondrial matrix 1. It provides essential cofactors for flavoenzymes involved in fatty acid β-oxidation, amino acid metabolism, and the glycine cleavage system of one-carbon metabolism 1. The protein is particularly critical for neural tube closure during early embryogenesis through its role in mitochondrial folate metabolism 1. Loss-of-function mutations in SLC25A32 cause folate-resistant neural tube defects in mice that can be rescued by formate supplementation, demonstrating the gene's essential role in embryonic development 1. Biallelic SLC25A32 variants have been identified in human neural tube defect cases 1. Additionally, a SLC25A32 polymorphism (rs2241777) is associated with reduced plasma folate levels and increased fracture risk in postmenopausal women 2. Beyond developmental disorders, SLC25A32 upregulation promotes malignant progression in glioblastoma through PI3K-AKT pathway activation and associates with poorer prognosis 3. The gene also shows differential expression across multiple cancer types with prognostic significance for immunotherapy response 4. Furthermore, SLC25A32 expression is upregulated in psoriatic skin and silica-induced pulmonary fibrosis, suggesting roles in inflammatory and fibrotic disease pathogenesis 5, 6.

Sources cited
1
SLC25A32 is a mitochondrial folate transporter enabling tetrahydrofolate transfer to mitochondria; loss-of-function causes folate-resistant neural tube defects preventable by formate supplementation in mice and identified in human NTD cases
PMID: 29666258
2
SLC25A32 polymorphism rs2241777 (AA genotype) associates with lower plasma folate levels and increased fracture risk in postmenopausal women
PMID: 24354357
3
SLC25A32 overexpression promotes glioblastoma cell proliferation and invasion via PI3K-AKT-mTOR pathway activation and associates with high grade and poor prognosis
PMID: 37365560
4
SLC25A32 shows aberrant expression in pan-cancer with prognostic significance, correlates with immune infiltration, and knockdown reduces breast cancer cell proliferation, invasion, and metastasis
PMID: 39624160
5
SLC25A32 expression is upregulated in psoriatic lesional skin and involved in riboflavin metabolism relevant to inflammatory skin disease
PMID: 40312926
6
SLC25A32 participates in mitochondrial folate pathway regulating myofibroblast differentiation; expression negatively regulates TGF-β-induced differentiation in silica-induced pulmonary fibrosis
PMID: 37280614
7
SLC25A32 is a folate transporter implicated in neural tube defect susceptibility, though no novel variants were identified in the examined myelomeningocele cohort
PMID: 28948692
8
SLC25A32 mutations associate with FAD metabolism disorders and MADD-like phenotypes involving impaired flavin cofactor availability
PMID: 33279678
Disease Associationsⓘ22
exercise intolerance, riboflavin-responsiveOpen Targets
0.64Moderate
spina bifidaOpen Targets
0.64Moderate
multiple acyl-CoA dehydrogenase deficiency, mild typeOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.32Weak
acute tonsillitisOpen Targets
0.14Weak
Familial prostate cancerOpen Targets
0.11Weak
prostate cancerOpen Targets
0.11Weak
cancerOpen Targets
0.10Suggestive
Iron deficiency anemiaOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.08Suggestive
glioblastoma multiformeOpen Targets
0.08Suggestive
neural tube defects, folate-sensitiveOpen Targets
0.05Suggestive
Isolated anencephaly/exencephalyOpen Targets
0.05Suggestive
breast cancerOpen Targets
0.05Suggestive
HemihypertrophyOpen Targets
0.05Suggestive
isolated hemihyperplasiaOpen Targets
0.05Suggestive
Spina bifida - hypospadiasOpen Targets
0.04Suggestive
spina bifida-hypospadias syndromeOpen Targets
0.04Suggestive
anencephaly 1Open Targets
0.04Suggestive
gliomaOpen Targets
0.04Suggestive
Exercise intolerance, riboflavin-responsiveUniProt
Neural tube defectsUniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FLAD1Protein interaction77%MTCH1Protein interaction77%FOLR2Shared pathway33%SLC22A10Shared pathway33%SLC22A25Shared pathway33%FOLR3Shared pathway33%
Tissue Expression6 tissues
Liver
100%
Brain
97%
Ovary
92%
Lung
86%
Bone Marrow
8%
Heart
2%
Gene Interaction Network
Click a node to explore
SLC25A32FLAD1MTCH1FOLR2SLC22A10SLC22A25FOLR3
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9H2D1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.11LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.78 [0.56–1.11]
RankingsWhere SLC25A32 stands among ~20K protein-coding genes
  • #11,411of 20,598
    Most Researched33
  • #11,355of 17,882
    Most Constrained (LOEUF)1.11
Genes detectedSLC25A32
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Mitochondria-Associated Gene SLC25A32 as a Novel Prognostic and Immunotherapy Biomarker: From Pan-Cancer Multiomics Analysis to Breast Cancer Validation.
PMID: 39624160
Anal Cell Pathol (Amst) · 2024
1.00
2
Polymorphism of SLC25A32, the folate transporter gene, is associated with plasma folate levels and bone fractures in Japanese postmenopausal women.
PMID: 24354357
Geriatr Gerontol Int · 2014
0.90
3
SLC25A32 promotes malignant progression of glioblastoma by activating PI3K-AKT signaling pathway.
PMID: 37365560
BMC Cancer · 2023
0.80
4
Riboflavin Deficiency Associated With Psoriasis: Insights From Population and Transcriptome.
PMID: 40312926
Exp Dermatol · 2025
0.70
5
Formate rescues neural tube defects caused by mutations in
PMID: 29666258
Proc Natl Acad Sci U S A · 2018
0.60