FOLR1
Chr 11ARfolate receptor alpha
Also known as: FBP, FOLR, FR-alpha, FRalpha, NCFTD
The encoded protein binds folate and reduced folic acid derivatives and mediates cellular uptake of 5-methyltetrahydrofolate through receptor-mediated endocytosis. Mutations cause neurodegeneration due to cerebral folate transport deficiency, inherited in an autosomal recessive pattern. This condition impairs folate transport across the blood-brain barrier, leading to progressive neurological deterioration despite normal systemic folate levels.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FOLR1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
An Evaluation of Maintenance Therapy Combination Mirvetuximab Soravtansine and Olaparib
RECRUITINGStudy of Carboplatin and Mirvetuximab Soravtansine in First-Line Treatment of Patients Receiving Neoadjuvant Chemotherapy With Advanced-Stage Ovarian, Fallopian Tube or Primary Peritoneal Cancer
RECRUITINGGenetically Engineered Cells (FH-FOLR1 ST CAR T Cells) for the Treatment of Advanced Refractory or Recurrent/Progressive Osteosarcoma, FIERCe Trial
RECRUITINGFH-FOLR1 Chimeric Antigen Receptor T Cell Therapy for Treating Pediatric Patients With Relapsed or Refractory Acute Myeloid Leukemia
RECRUITINGExternal Resources
Links to major genomics databases and tools