Gene: FOLR1

Alternate names for this Gene: FBP|FOLR|FRalpha

Gene Summary: The protein encoded by this gene is a member of the folate receptor family. Members of this gene family bind folic acid and its reduced derivatives, and transport 5-methyltetrahydrofolate into cells. This gene product is a secreted protein that either anchors to membranes via a glycosyl-phosphatidylinositol linkage or exists in a soluble form. Mutations in this gene have been associated with neurodegeneration due to cerebral folate transport deficiency. Due to the presence of two promoters, multiple transcription start sites, and alternative splicing, multiple transcript variants encoding the same protein have been found for this gene.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.4

Description of this Gene: folate receptor alpha

Type of Gene: protein-coding

rs1540087 in FOLR1 gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.

rs121918405 in FOLR1 gene and Neurodegeneration Due To Cerebral Folate Transport Deficiency PMID 20018644 2009 Congenital null mutations of the FOLR1 gene: a progressive neurologic disease and its treatment.

PMID 19732866 2009 Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism.