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Amnionless

From Wikipedia, the free encyclopedia
AMN
Identifiers
AliasesAMN, PRO1028, amnionless, Amnionless, amnion associated transmembrane protein, IGS2
External IDsOMIM: 605799; MGI: 1934943; HomoloGene: 12804; GeneCards: AMN; OMA:AMN - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_030943

NM_033603

RefSeq (protein)

NP_112205

NP_291081

Location (UCSC)Chr 14: 102.92 – 102.93 MbChr 12: 111.24 – 111.24 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Amnionless is a protein that in humans is encoded by the AMN gene.[5][6]

Function

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A complex of amnionless and cubilin forms the cubam receptor.

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.[6]

Clinical significance

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Mutations of the AMN gene may cause Imerslund–Gräsbeck syndrome.

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000166126Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021278Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Kalantry S, Manning S, Haub O, Tomihara-Newberger C, Lee HG, Fangman J, Disteche CM, Manova K, Lacy E (Mar 2001). "The amnionless gene, essential for mouse gastrulation, encodes a visceral-endoderm-specific protein with an extracellular cysteine-rich domain". Nat Genet. 27 (4): 412–6. doi:10.1038/86912. PMID 11279523. S2CID 12758039.
  6. ^ a b "Entrez Gene: AMN amnionless homolog (mouse)".
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Further reading

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