Amnionless Anticorpi

Megaloblastic anemia 1 (MGA1), also referred to as MGA1 Norwegian type or Imerslund-Grasbeck syndrome (I-GS), is a hereditary, recessive disorder caused by defects in the AMN gene. Patients suffering from MGA1 have a selective malabsorption of vitamin B12, causing impaired function of thymidine synthase which in turn interrupts DNA synthesis. Amnionless protein, encoded for by the AMN gene, is crucial for vitamin B12 absorption. It modulates a BMP (bone morphogenetic protein) signaling pathway and is therefore important for trunk mesoderm production during development. Amnionless is a membrane protein that interacts with cubulin and is primarily expressed in colon, kidney and small intestine. Shorter isoforms can also be detected in thymus, testis and peripheral blood leukocytes.