Property Summary

NCBI Gene PubMed Count 21
Grant Count 27
R01 Count 20
Funding $2,545,217.3
PubMed Score 14.90
PubTator Score 10.92

Knowledge Summary

Patent

No data available

Expression

 GO Function (1)

Gene RIF (8)

PMID Text
26040326 heterozygous mutations in AMN in a family from the United Kingdom with clinical features of Imerslund-Grasbeck Syndrome
22929189 Our genetic screening of 154 families of patients with inherited cobalamin malabsorption revealed population-specific mutations, mutational hotspots, and functionally distinct regions in the three causal genes: CUBN, AMN, and GIF.
22078000 We present evidence that this founder mutation causes over 50% of the Imerslund-Grasbeck syndrome (IGS) cases among Arabic, Turkish, and Sephardic Jewish families, and the mutation is as old as human civvlization.
21750092 amnionless is essential for the correct luminal expression of cubilin in humans.
17979745 This review summarizes recent data on the biological function of amnionless and focuses on its implication in embryonic nutrition and central nervous system malformations.
16403802 Recurrent spontaneous abortions may be caused by mutations in the Amnionless gene.
14576052 cubilin and amnionless are subunits of a novel cubilin/amnionless (cubam) complex
12590260 homozygous mutations affecting exons 1-4 of human AMN lead to megaloblastic anemia 1

AA Sequence

MGVLGRVLLWLQLCALTQAVSKLWVPNTDFDVAANWSQNRTPCAGGAVEFPADKMVSVLVQEGHAVSDML      1 - 70
LPLDGELVLASGAGFGVSDVGSHLDCGAGEPAVFRDSDRFSWHDPHLWRSGDEAPGLFFVDAERVPCRHD     71 - 140
DVFFPPSASFRVGLGPGASPVRVRSISALGRTFTRDEDLAVFLASRAGRLRFHGPGALSVGPEDCADPSG    141 - 210
CVCGNAEAQPWICAALLQPLGGRCPQAACHSALRPQGQCCDLCGAVVLLTHGPAFDLERYRARILDTFLG    211 - 280
LPQYHGLQVAVSKVPRSSRLREADTEIQVVLVENGPETGGAGRLARALLADVAENGEALGVLEATMRESG    281 - 350
AHVWGSSAAGLAGGVAAAVLLALLVLLVAPPLLRRAGRLRWRRHEAAAPAGAPLGFRNPVFDVTASEELP    351 - 420
LPRRLSLVPKAAADSTSHSYFVNPLFAGAEAEA                                         421 - 453
//

Text Mined References (23)

PMID Year Title
26040326 2015 Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22929189 2012 Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.
22631584 2012 Imerslund-Gräsbeck syndrome: new mutation in amnionless.
22078000 2011 Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities.
21750092 2011 Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7.
20088845 2010 AMN directs endocytosis of the intrinsic factor-vitamin B(12) receptor cubam by engaging ARH or Dab2.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17979745 2007 Multiligand endocytosis and congenital defects: roles of cubilin, megalin and amnionless.
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