B12-asiaa: Cubilin, amnionless (cubam- complex) tärkeä B12-vitamiinin imeytymiselle.

 Amnionless,. Geeni AMN, Kromosomi 14q32.32.

Also known as

PRO1028; amnionless

Summary

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. [provided by RefSeq, Jul 2008]

Related articles in PubMed

1. Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report. Montgomery E, et al. BMC Med Genet, 2015 Jun 4. PMID 26040326, Free PMC Article
2. Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities. Beech CM, et al. Orphanet J Rare Dis, 2011 Nov 13. PMID 22078000, Free PMC Article
3. Variations of the Amnionless gene in recurrent spontaneous abortions. Kaare M, et al. Mol Hum Reprod, 2006 Jan. PMID 16403802
4. How does the mouse get its trunk? Dunn NR, et al. Nat Genet, 2001 Apr. PMID 11279507
5. Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7. Namour F, et al. Haematologica, 2011 Nov. PMID 21750092, Free PMC Article

See all (21) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

1. heterozygous mutations in AMN in a family from the United Kingdom with clinical features of Imerslund-Grasbeck Syndrome
2. 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.
3. 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.
4. amnionless is essential for the correct luminal expression of cubilin in humans.
5. Recurrent spontaneous abortions may be caused by mutations in the Amnionless gene.
6. This review summarizes recent data on the biological function of amnionless and focuses on its implication in embryonic nutrition and central nervous system malformations.
7. cubilin and amnionless are subunits of a novel cubilin/amnionless (cubam) complex
8. homozygous mutations affecting exons 1-4 of human AMN lead to megaloblastic anemia 1