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Study shows that cubilin mutations (novel and some previously reported) and all previously reported amnionless missense mutations resulted in endoplasmic reticulum retention and completely inhibited amnionless-dependent plasma membrane expression of cubilin.
heterozygous mutations in AMN in a family from the United Kingdom with clinical features of Imerslund-Grasbeck Syndrome
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.
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.
amnionless is essential for the correct luminal expression of cubilin in humans.
homozygous mutations affecting exons 1-4 of human AMN lead to megaloblastic anemia 1
cubilin and amnionless are subunits of a novel cubilin/amnionless (cubam) complex
Recurrent spontaneous abortions may be caused by mutations in the Amnionless gene.
This review summarizes recent data on the biological function of amnionless and focuses on its implication in embryonic nutrition and central nervous system malformations.
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.
, protein amnionless
, visceral endoderm-specific type 1 transmembrane protein
, type I transmembrane protein