FOLR1

Also known as FBP, FOLR, Folate receptor 1, folate receptor 1 (adult), folate receptor alpha, FRalpha, NCFTD

protein-coding gene in the species Homo sapiens

Gene data

FOLR1

Name: folate receptor alpha
Type: protein-coding
Position: 72,189,529–72,199,329 (+)
Aliases: FBP, FOLR, FR-alpha, FRalpha, NCFTD
Ensembl: ENSG00000110195
RefSeq RNA: NM_000802.3, NM_016724.3, NM_016725.3, NM_016729.3, NM_016730.1
RefSeq protein: NP_000793.1, NP_057936.1, NP_057937.1, NP_057941.1

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].