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Defective AMN causes MGA1

Summary

Organism

Homo sapiens (human)

Reactome

R-HSA-3359462

PubChem

R-HSA-3359462

Description

Defects in AMN cause recessive hereditary megaloblastic anemia 1 (RH-MGA1 aka MGA1 Norwegian type or Imerslund-Grasbeck syndrome, I-GS; MIM:261100). The Norwegian cases described by Imerslund were due to defects in AMN (Imerslund 1960). The resultant malabsorption of Cbl (vitamin B12) leads to impaired B12-dependent folate metabolism and ultimately impaired thymine synthesis and DNA replication.

Click on a node on the pathway to see its details. Glycoproteins are marked with a glycoprotein icon in their name.

SPV: a JavaScript Signaling Pathway Visualizer, Bioinformatics, 2018

Displaying **all 3** entries
UniProt ID	Protein Name	Gene Symbol	Pathway Viewer
O60494	Cubilin	CUBN IFCR	view
P27352	Cobalamin binding intrinsic factor	CBLIF GIF IFMH	view
Q9BXJ7	Protein amnionless [Cleaved into: Soluble protein amnionless]	AMN UNQ513/PRO1028	view

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