FOLR1 Antibody – Mouse Monoclonal

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]

FOLR1: Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate to the interior of cells. Defects in FOLR1 are the cause of neurodegeneration due to cerebral folate transport deficiency (NCFTD). NCFTD is an autosomal recessive disorder resulting from brain- specific folate deficiency early in life. Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy, and leukodystrophy. Recognition and diagnosis of this disorder is critical because folinic acid therapy can reverse the clinical symptoms and improve brain abnormalities and function. Belongs to the folate receptor family.

Protein type: Membrane protein, GPI anchor

Chromosomal Location of Human Ortholog: 11q13.3-q14.1

Cellular Component: anchored to external side of plasma membrane; apical plasma membrane; basolateral plasma membrane; brush border membrane; cell surface; clathrin-coated vesicle; endoplasmic reticulum membrane; endosome; ER-Golgi intermediate compartment membrane; Golgi membrane; integral to plasma membrane; membrane; nucleus; plasma membrane

Molecular Function: drug binding; folic acid binding; folic acid transporter activity; methotrexate binding; receptor activity

Biological Process: axon regeneration; COPII coating of Golgi vesicle; ER to Golgi vesicle-mediated transport; folic acid metabolic process; folic acid transport; heart looping; receptor-mediated endocytosis; regulation of transforming growth factor beta receptor signaling pathway

Disease: Neurodegeneration Due To Cerebral Folate Transport Deficiency