FOLRN Gene

FOLR1 Gene

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">FOLRN Gene</th>
</tr>
<tr>
<td class="label">Symbol</td>
<td>FOLR1</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>Folate Receptor Alpha</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>11q13.4</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>2348</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000110195</td>
</tr>
<tr>
<td class="label">UniProt</td>
<td>P15328</td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">1 edges</a></td>
</tr>
</table>

Introduction

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.

Overview

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](/diseases/alzheimers-disease), [Parkinson's disease](/diseases/parkinsons-disease), and neural tube defects. [@homocysteine]

Gene Information

Protein Structure

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 Gene

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">FOLRN Gene</th>
</tr>
<tr>
<td class="label">Symbol</td>
<td>FOLR1</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>Folate Receptor Alpha</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>11q13.4</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>2348</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000110195</td>
</tr>
<tr>
<td class="label">UniProt</td>
<td>P15328</td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">1 edges</a></td>
</tr>
</table>

Introduction

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.

Overview

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](/diseases/alzheimers-disease), [Parkinson's disease](/diseases/parkinsons-disease), and neural tube defects. [@homocysteine]

Gene Information

Protein Structure

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

Molecular Function

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

Expression Pattern

FOLR1 has specific expression:

• Choroid plexus (folate transport to CSF)
• Kidney
• Lung
• Tumors

In the brain:

• Choroid plexus epithelium
• Some [neurons](/entities/neurons) (developmental)
• Activated [microglia](/entities/microglia)

Disease Associations

Alzheimer's Disease

• Folate deficiency common in AD
• Elevated homocysteine (risk factor)
• Impaired methylation affects [tau](/proteins/tau)
• Clinical trials of folate supplementation
• PMID: 14636979(https://pubmed.ncbi.nlm.nih.gov/14636979/), PMID: 18462846(https://pubmed.ncbi.nlm.nih.gov/18462846/)

Parkinson's Disease

• Folate in dopaminergic neuron health
• Homocysteine elevation in PD
• Mitochondrial function links
• PMID: 16554034(https://pubmed.ncbi.nlm.nih.gov/16554034/), PMID: 19419756(https://pubmed.ncbi.nlm.nih.gov/19419756/)

Neural Tube Defects

• Folate requirement for neural tube closure
• FOLR1 mutations cause NTDs
• Folate supplementation prevention
• PMID: 10441742(https://pubmed.ncbi.nlm.nih.gov/10441742/), PMID: 11726694(https://pubmed.ncbi.nlm.nih.gov/11726694/)

Cancer

• Overexpression in many cancers
• Target for folate-conjugated drugs
• Diagnostic imaging

Down Syndrome

• Folate metabolism altered
• Risk factor for AD in DS
• Homocysteine elevation

Therapeutic Implications

• 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

Animal Models

• Folr1 knockout mice: Neural tube defects, seizures
• Zebrafish: Developmental studies

Background

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.

See Also

• Folate Metabolism - Pathway overview
• [Alzheimer's Disease](/diseases/alzheimers- [Parkinson's Disease](/diseases/parkinsons-disease)iation
• [Parkinson's Disease](/diseases/parkinsons-disease) Disease association
• Homocysteine - Risk factor metabolite
• Methylation - Epigenetic regulation
• Choroid Plexus - Folate transport
• Vitamin B12 - Related nutrient

External Links

• [NCBI Gene FOLR1](https://www.ncbi.nlm.nih.gov/gene/2348)
• [UniProt P15328](https://www.uniprot.org/uniprotkb/P15328)
• [HGNC FOLR1](https://www.genenames.org/data/hgnc_data.php?hgnc_id=3768)
• [Ensembl FOLR1](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000110195)

References

[Unknown, - Folate and AD (n.d.)](https://pubmed.ncbi.nlm.nih.gov/14636979/)

[Unknown, - Homocysteine in AD (n.d.)](https://pubmed.ncbi.nlm.nih.gov/18462846/)

[Unknown, - Folate in PD (n.d.)](https://pubmed.ncbi.nlm.nih.gov/16554034/)

[Unknown, - Homocysteine and PD (n.d.)](https://pubmed.ncbi.nlm.nih.gov/19419756/)

[Unknown, - Folate and NTDs (n.d.)](https://pubmed.ncbi.nlm.nih.gov/10441742/)

[Unknown, - FOLR1 function (n.d.)](https://pubmed.ncbi.nlm.nih.gov/11726694/)