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Article

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

Blood - 15 Aug 2005

He Qianchuan, Madsen Mette, Kilkenney Adam, Gregory Brittany, Christensen Erik I, Vorum Henrik, Højrup Peter, Schäffer Alejandro A, Kirkness Ewen F, Tanner Stephan M, de la Chapelle Albert, Giger Urs, Moestrup Søren K, Fyfe John C

Abstract excerpt

Amnionless (AMN) and cubilin gene products appear to be essential functional subunits of an endocytic receptor called cubam. Mutation of either gene causes autosomal recessive Imerslund-Gräsbeck syndrome (I-GS, OMIM no. 261100) in humans, a disorder characterized by selective intestinal malabsorption of cobalamin (vitamin B12) and urinary loss of several specific low-molecular-weight proteins. Vital insight into...

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Identifiers

PMID: 15845892
DOI: 10.1182/blood-2005-03-1197
PMCID: PMC1895201

Genes

AMN

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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.

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Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B12) absorption in vivo.PMID 15845892Read ↗

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

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

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

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

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

Canine Imerslund-Gräsbeck syndrome maps to a region orthologous to HSA14q.Semantic proximity Read ↗

A Frameshift Mutation in the Cubilin Gene (CUBN) in Border Collies with Imerslund-Gräsbeck Syndrome (Selective Cobalamin Malabsorption)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 ↗

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 ↗

An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Gräsbeck syndrome in dogsSemantic proximity Read ↗

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

Pathophysiology of cubilin: of rats, dogs and men.Semantic proximity Read ↗

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