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juvenile megaloblastic anaemia 1
Juvenile megaloblastic anaemia 1 (Imerslund-Grasbeck syndrome) is a disease caused by selective cobalamin malabsorption and inconstant proteinuria. It is caused by mutations in the cubilin (CUBN) or amnionless (AMN) genes.〔Namour F, Dobrovoljski G, Chery C, Audonnet S, Feillet F, Sperl W, Gueant JL (2011) Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7. Haematologica〕
==Pathophysiology==
The protein cubilin binds to intrinsic factor-cobalamin complex and is expressed in the distal small intestine and proximal renal tubule. Amnionless is a transmembrane protein that binds tightly to the N-terminal end of cubilin. Together these proteins form the multiligand cubam complex. Mutations in these genes may cause a decrease in the uptake of vitamin B12 leading to megaloblastic anaemia.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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