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Protein Page:
AMN (human)

AMN Necessary for efficient absorption of vitamin B12. May direct the production of trunk mesoderm during development by modulating a bone morphogenetic protein (BMP) signaling pathway in the underlying visceral endoderm. Defects in AMN are a cause of recessive hereditary megaloblastic anemia 1 (RH-MGA1); also known as MGA1 Norwegian type or Imerslund-Grasbeck syndrome (I-GS). RH-MGA1 is due to selective malabsorption of vitamin B12. Defects in vitamin B12 absorption lead to impaired function of thymidine synthase. As a consequence DNA synthesis is interrupted. Rapidly dividing cells involved in erythropoiesis are particularly affected. 1 isoforms of the human protein are produced by alternative promoter. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral
Chromosomal Location of Human Ortholog: 14q32.3
Cellular Component: apical plasma membrane; endocytic vesicle; endosome membrane; extracellular space; plasma membrane
Molecular Function: receptor binding
Biological Process: cobalamin metabolic process; cobalamin transport; Golgi to plasma membrane protein transport; lipoprotein metabolic process; receptor-mediated endocytosis
Disease: Megaloblastic Anemia 1
Reference #:  Q9BXJ7 (UniProtKB)
Alt. Names/Synonyms: AMN; amnionless homolog (mouse); amnionless protein; PRO1028; Q9BXJ7; visceral endoderm-specific type 1 transmembrane protein
Gene Symbols: AMN
Molecular weight: 47,754 Da
Basal Isoelectric point: 5.76  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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