Protein amnionless [Cleaved into: Soluble protein amnionless]

Definition:

Membrane-bound component of the endocytic receptor formed by AMN and CUBN. Required for normal CUBN glycosylation and trafficking to the cell surface. The complex formed by AMN and CUBN is required for efficient absorption of vitamin B12. Required for normal CUBN-mediated protein transport in the kidney (Probable).

References:

[1]. Narumon Densupsoontorn, et al. Imerslund-Gräsbeck syndrome: new mutation in amnionless. Pediatr Int. 2012 Jun;54(3):e19-21. [Content Brief]

[2]. Stephan M Tanner, et al. Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia. Nat Genet. 2003 Mar;33(3):426-9. [Content Brief]

[3]. John C Fyfe, et al. The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless. Blood. 2004 Mar 1;103(5):1573-9. [Content Brief]

[4]. Tomohiro Udagawa, et al. Amnionless-mediated glycosylation is crucial for cell surface targeting of cubilin in renal and intestinal cells. Sci Rep. 2018 Feb 5;8(1):2351. [Content Brief]

[5]. Emma Montgomery, et al. Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report. BMC Med Genet. 2015 Jun 4;16:35. [Content Brief]

[6]. Casper Larsen, et al. Structural assembly of the megadalton-sized receptor for intestinal vitamin B12 uptake and kidney protein reabsorption. Nat Commun. 2018 Dec 6;9(1):5204. [Content Brief]

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