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Rabbit Anti-Folate Receptor alpha/FITC Conjugated antibody
background:
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]
Function:
Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate to the interior of cells.
Subcellular Location:
Cell membrane. Secreted.
Tissue Specificity:
Exclusively expressed in tissues of epithelial origin. Expression is increased in malignant tissues. Expressed in kidney, lung and cerebellum.
Post-translational modifications:
Eight disulfide bonds are present.
The secreted form is derived from the membrane-bound form either by cleavage of the GPI anchor, or/and by proteolysis catalyzed by a metalloprotease.
DISEASE:
Defects in FOLR1 are the cause of neurodegeneration due to cerebral folate transport deficiency (NCFTD) [MIM:613068]. 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. Note=Recognition and diagnosis of this disorder is critical because folinic acid therapy can reverse the clinical symptoms and improve brain abnormalities and function.
Similarity:
Belongs to the folate receptor family.
Database links:
Entrez Gene: 2348 Human
Omim: 136430 Human
SwissProt: P15328 Human
Unigene: 73769 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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