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.
Long isoforms are highly expressed in small intestine, colon and kidney (renal proximal tubule epithelial cells). Shorter isoforms are detected at lower levels in testis, thymus and peripheral blood leukocytes.
Involvement in disease
Defects in AMN are a cause of recessive hereditary megaloblastic anemia 1 (RH-MGA1) [MIM:261100]; 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.
Western blot analysis on immunoprecipitation pellet from (1) Human fetal kidney lysate or (2) 1X PBS (negative control) using ab170893 at 1/1000 dilution. Detection utilised HRP-conjugated anti-rabbit IgG which preferentially detects the non-reduced form of rabbit IgG.
Western blot - Anti-AMN antibody [EPR12015(B)] (ab170893)
All lanes : Anti-AMN antibody [EPR12015(B)] (ab170893) at 1/1000 dilution
Lane 1 : Human small intestine lysate Lane 2 : Human fetal kidney lysate
Lysates/proteins at 10 µg per lane.
Secondary All lanes : Goat anti-rabbit HRP at 1/2000 dilution