Aliases for FOLR1 Gene
External Ids for FOLR1 Gene
Previous HGNC Symbols for FOLR1 Gene
Previous GeneCards Identifiers for FOLR1 Gene
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. [provided by RefSeq, Oct 2009]
GeneCards Summary for FOLR1 Gene
FOLR1 (Folate Receptor Alpha) is a Protein Coding gene. Diseases associated with FOLR1 include Neurodegeneration Due To Cerebral Folate Transport Deficiency and Neural Tube Defects. Among its related pathways are Folate Metabolism and Antifolate resistance. Gene Ontology (GO) annotations related to this gene include folic acid transmembrane transporter activity. An important paralog of this gene is FOLR2.
UniProtKB/Swiss-Prot Summary for FOLR1 Gene
Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate and folate analogs into the interior of cells. Has high affinity for folate and folic acid analogs at neutral pH. Exposure to slightly acidic pH after receptor endocytosis triggers a conformation change that strongly reduces its affinity for folates and mediates their release. Required for normal embryonic development and normal cell proliferation.