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Rabbit Anti-Intrinsic Factor antibody
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, Jul 2008]
Function:
Intrinsic factor promotes absorption of the essential vitamin Cobalamin (Cbl) in the ileum by specific receptor mediated endocytosis. Defects in the gene GIF are the cause of hereditary intrinsic factor deficiency (IFD) also called congenital pernicious anemia. IFD is an autosomal recessive disorder characterized by megaloblastic anemia.
Subcellular Location:
Secreted
Tissue Specificity:
Gastric mucosa.
DISEASE:
Hereditary intrinsic factor deficiency (IFD)
Similarity:
Belongs to the eukaryotic cobalamin transport proteinsfamily.
SWISS:
P27352
Gene ID:
2694
Database links:
Entrez Gene: 2694 Human
Entrez Gene: 1923 Mouse
Entrez Gene: 29319 Rat
Omim: 609342 Human
SwissProt: P27352 Human
SwissProt: P52787 Mouse
SwissProt: P17267 Rat
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