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Gene Review

AMN  -  amnion associated transmembrane protein

Homo sapiens

Synonyms: PRO1028, Protein amnionless, UNQ513/PRO1028, amnionless
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Disease relevance of AMN


High impact information on AMN

  • In the diagnosis of juvenile cobalamin deficiency, mutational analysis of the CUBN, AMN, and GIF genes provides a molecular characterization of the underlying defect and may be the diagnostic method of choice [3].
  • In transfected cells expressing either AMN or a truncated IF-cobalamin-binding cubilin construct, neither protein alone conferred ligand endocytosis [4].

Anatomical context of AMN

  • Here we show that cubilin and AMN colocalize in the endocytic apparatus of polarized epithelial cells and copurify as a tight complex during IF-cobalamin affinity and nondenaturing gel filtration chromatography [4].
  • However, in cells cotransfected with AMN and the cubilin construct, cubilin trafficked to the cell surface and endosomes, and the cells exhibited IF-cobalamin endocytosis and lysosomal degradation of IF [4].

Other interactions of AMN

  • In a series of families clinically diagnosed with likely IGS, at least six displayed no evidence of mutations in CUBN or AMN [3].


  1. Homozygous AMN mutation in hereditary selective intestinal malabsorption of vitamin B12 in Jordan. Al-Alami, J.R., Tanner, S.M., Tayeh, M.K., de la Chapelle, A., El-Shanti, H. Saudi medical journal. (2005) [Pubmed]
  2. Imerslund-Gräsbeck syndrome (selective vitamin B12 malabsorption with proteinuria). Gräsbeck, R. Orphanet journal of rare diseases [electronic resource]. (2006) [Pubmed]
  3. Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene. Tanner, S.M., Li, Z., Perko, J.D., Oner, C., Cetin, M., Altay, C., Yurtsever, Z., David, K.L., Faivre, L., Ismail, E.A., Gräsbeck, R., de la Chapelle, A. Proc. Natl. Acad. Sci. U.S.A. (2005) [Pubmed]
  4. The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless. Fyfe, J.C., Madsen, M., Højrup, P., Christensen, E.I., Tanner, S.M., de la Chapelle, A., He, Q., Moestrup, S.K. Blood (2004) [Pubmed]
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