This gene is a member of the cobalamin transport protein family. It encodes a glycoprotein secreted by parietal cells of the gastric mucosa and is required for adequate absorption of vitamin B12. Vitamin B12 is necessary for erythrocyte maturation and mutations in this gene may lead to congenital pernicious anemia. [provided by RefSeq]
Full Name
gastric intrinsic factor (vitamin B synthesis)
Function
Promotes absorption of the essential vitamin cobalamin (Cbl) in the ileum. After interaction with CUBN, the CBLIF-cobalamin complex is internalized via receptor-mediated endocytosis.
Biological Process
Cobalamin transport Source: UniProtKB
Cobalt ion transport Source: UniProtKB-KW
Cellular Location
Secreted
Involvement in disease
Hereditary intrinsic factor deficiency (IFD):
Autosomal recessive disorder characterized by megaloblastic anemia.
Learn more: gif antibody
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