Folrn Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
The FOLR1 gene (Folate Receptor Alpha) encodes a high-affinity folate binding protein that mediates cellular uptake of folate. Folate metabolism is essential for DNA synthesis, methylation, and neuronal health. Dysregulated folate metabolism has been implicated in Alzheimer's disease, Parkinson's disease, and neural tube defects.
| Attribute |
Value |
| Symbol |
FOLR1 |
| Full Name |
Folate Receptor Alpha |
| Chromosomal Location |
11q13.4 |
| NCBI Gene ID |
2348 |
| Ensembl ID |
ENSG00000110195 |
| UniProt |
P15328 |
FOLR1 is a 257-amino acid GPI-anchored protein with:
- N-terminal signal peptide
- Folate binding domain
- GPI anchor for membrane localization
- Disulfide bonds for stability
FOLR1 mediates folate uptake:
- Folate Transport: High-affinity folate (vitamin B9) uptake
- One-Carbon Metabolism: Supports methylation and DNA synthesis
- Homocysteine Regulation: Converts homocysteine to methionine
- Neuroprotection: Supports neuronal health and myelination
FOLR1 has specific expression:
- Choroid plexus (folate transport to CSF)
- Kidney
- Lung
- Tumors
In the brain:
- Folate deficiency common in AD
- Elevated homocysteine (risk factor)
- Impaired methylation affects tau
- Clinical trials of folate supplementation
- PMID:14636979, PMID:18462846
- Folate requirement for neural tube closure
- FOLR1 mutations cause NTDs
- Folate supplementation prevention
- PMID:10441742, PMID:11726694
- Overexpression in many cancers
- Target for folate-conjugated drugs
- Diagnostic imaging
- Folate metabolism altered
- Risk factor for AD in DS
- Homocysteine elevation
- Folate Supplementation: For deficiency and NTD prevention
- B-Vitamin Complex: B6, B12, folate for homocysteine
- Folate-Conjugated Drugs: Targeted cancer therapy
- Dietary Fortification: Public health measure
- Folr1 knockout mice: Neural tube defects, seizures
- Zebrafish: Developmental studies
The study of Folrn Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
- PMID:14636979 - Folate and AD
- PMID:18462846 - Homocysteine in AD
- PMID:16554034 - Folate in PD
- PMID:19419756 - Homocysteine and PD
- PMID:10441742 - Folate and NTDs
- PMID:11726694 - FOLR1 function