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FOLR1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

FOLR1 gene

The FOLR1 gene provides instructions for making folate receptor alpha, a protein critical for transporting the B-vitamin folate into cells, particularly within the brain.

Normal Function

The FOLR1 gene provides instructions for making a protein called folate receptor alpha. This protein helps regulate the transport of the B-vitamin folate (vitamin B9) into cells. Folate is essential for processes including DNA production and repair, regulation of gene activity, and protein production.

Folate receptor alpha is found within the cell membrane, where it binds to 5-methyl-tetrahydrofolate (5-MTHF) to bring it into the cell. This receptor is produced in the highest amounts in the brain, specifically in the choroid plexus, a region that releases cerebrospinal fluid (CSF). Folate receptor alpha is thought to play a major role in transporting folate from the bloodstream across the choroid plexus into the CSF, ultimately reaching the brain. In the brain, folate is necessary for:

  • Creating chemical messengers called neurotransmitters.
  • Producing a fatty substance called myelin, which insulates nerve fibers and promotes the rapid transmission of nerve impulses.

Health Conditions Related to Genetic Changes

Cerebral folate transport deficiency

At least 11 mutations in the FOLR1 gene have been found to cause cerebral folate transport deficiency, a disorder characterized by neurological problems that typically begin around age 2. These mutations result in a lack of protein or a malfunctioning protein.

Without functional folate receptor alpha in brain cells, 5-MTHF cannot be transported into the CSF and passed to the brain. A shortage of folate in the brain impairs normal cell functions, such as the production of DNA, proteins, and neurotransmitters. Furthermore, folate deficiency affects the stability of myelin, leading to impaired production or increased breakdown of this tissue, a condition known as leukodystrophy. These brain abnormalities lead to the following clinical features:

  • Intellectual disability
  • Movement problems
  • Recurrent seizures (epilepsy)

Frequently Asked Questions

Diagnosis of CFTD usually involves measuring folate levels in the cerebrospinal fluid (CSF) through a lumbar puncture, along with genetic testing to identify mutations in the FOLR1 gene. Clinical symptoms and brain imaging studies may also support the diagnosis.
Treatment for CFTD typically involves high-dose oral or intravenous folinic acid, a specific form of folate. This helps to bypass the defective transport system and deliver folate directly to the brain, which can help manage symptoms and improve neurological outcomes, especially when started early.
Early signs of CFTD typically appear around age 2 and can include developmental delays, seizures, movement disorders, speech difficulties, and problems with coordination. These neurological issues arise from a lack of folate in the brain.
CFTD is an autosomal recessive disorder, meaning a child must inherit two copies of the mutated FOLR1 gene (one from each parent) to develop the condition. Parents who are carriers (have one mutated copy) usually do not have symptoms but have a 25% chance with each pregnancy of having an affected child.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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