AMN Antibody – Rabbit Polyclonal

The protein encoded by this gene is a type I transmembrane protein. It is thought to modulate bone morphogenetic protein (BMP) receptor function by serving as an accessory or coreceptor, and thus facilitates or hinders BMP binding. It is known that the mouse AMN gene is expressed in the extraembryonic visceral endoderm layer during gastrulation, but it is found to be mutated in amnionless mouse. The encoded protein has sequence similarity to short gastrulation (Sog) and procollagen IIA proteins in Drosophila. [provided by RefSeq, Jul 2008]

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.

Protein type: Membrane protein, integral

Chromosomal Location of Human Ortholog: 14q32.3

Cellular Component: extracellular space; endocytic vesicle; apical plasma membrane; integral to membrane; plasma membrane; endosome membrane

Molecular Function: receptor binding

Biological Process: receptor-mediated endocytosis; vitamin metabolic process; cobalamin metabolic process; multicellular organismal development; cobalamin transport; Golgi to plasma membrane protein transport; lipoprotein metabolic process; excretion; water-soluble vitamin metabolic process

Disease: Megaloblastic Anemia 1