Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate and folate analogs into the interior of cells.
基因名
FOLR1
蛋白名
Folate receptor alpha
亚细胞定位
Cell membrane. Secreted.
组织特异性
Exclusively expressed in tissues of epithelial origin. Expression is increased in malignant tissues. Expressed in kidney, lung and cerebellum.
翻译后修饰
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.
疾病
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.
相似性
Belongs to the folate receptor family.
功能
Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate to the interior of cells.