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Article

The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless.

Blood - 1 Mar 2004

Fyfe John C, Madsen Mette, Højrup Peter, Christensen Erik I, Tanner Stephan M, de la Chapelle Albert, He Qianchuan, Moestrup Søren K

Abstract excerpt

Imerslund-Gräsbeck syndrome (I-GS, megaloblastic anemia 1) is an autosomal recessive disorder characterized by intestinal cobalamin (vitamin B(12)) malabsorption and proteinuria. I-GS-causing mutations are found in either of 2 genes encoding the epithelial proteins: cubilin and amnionless (AMN). Cubilin recognizes intrinsic factor (IF)-cobalamin and various other proteins to be endocytosed in the intestine and...

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Source

Identifiers

PMID: 14576052
DOI: 10.1182/blood-2003-08-2852

Genes

AMN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless.PMID 14576052Read ↗

Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B12) absorption in vivo.Semantic proximity Read ↗

AMN directs endocytosis of the intrinsic factor-vitamin B(12) receptor cubam by engaging ARH or Dab2.Semantic proximity Read ↗

Genetic evidence of an accessory activity required specifically for cubilin brush-border expression and intrinsic factor-cobalamin absorption.Semantic proximity Read ↗

Cellular import of cobalamin (Vitamin B-12).Semantic proximity Read ↗

Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndromeSemantic proximity Read ↗

Mouse amnionless, which is required for primitive streak assembly, mediates cell-surface localization and endocytic function of cubilin on visceral endoderm and kidney proximal tubules.Semantic proximity Read ↗

Novel CUBN Mutation in a Young Child With Megaloblastic Anemia.Semantic proximity Read ↗

A frameshift mutation in the cubilin gene (<i><scp>CUBN</scp></i>) in <scp>B</scp>eagles with <scp>I</scp>merslund–<scp>G</scp>räsbeck syndrome (selective cobalamin malabsorption)Semantic proximity Read ↗

Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.Semantic proximity Read ↗

Cubilin expression is monoallelic and epigenetically augmented via PPARs.Semantic proximity Read ↗

Selective intestinal cobalamin malabsorption with proteinuria (Imerslund-Gräsbeck syndrome) in juvenile Beagles.Semantic proximity Read ↗

How can cobalamin injections be spaced in long-term therapy for inborn errors of vitamin B(12) absorption?Semantic proximity Read ↗

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