Protein Amnionless
Das AMN-Gen kodiert einen Kofaktor ohne den der Proteinrezeptor Cubilin nicht internalisiert werden kann. Im Darm führen Defekte zu einer gestörten Aufnahme von Vitamin B12 und im proximalen Tubulus zu einer tubulären Proteinurie. Mutationen sind für die autosomal rezessive Erkrankung der megaloblastären Anämie verantwortlich.
Gentests:
Forschung |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Aminoff M et al. (1999) Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.
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2. |
Fyfe JC et al. (2004) The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless.
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3. |
Wang X et al. (1996) A candidate gene for the amnionless gastrulation stage mouse mutation encodes a TRAF-related protein.
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4. |
Tomihara-Newberger C et al. (1998) The amn gene product is required in extraembryonic tissues for the generation of middle primitive streak derivatives.
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5. |
None (1999) Moonlighting proteins.
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6. |
None (2001) The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases.
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7. |
Dunn NR et al. (2001) How does the mouse get its trunk?
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8. |
Kalantry S et al. (2001) The amnionless gene, essential for mouse gastrulation, encodes a visceral-endoderm-specific protein with an extracellular cysteine-rich domain.
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9. |
Tanner SM et al. (2003) Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia.
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10. |
GRASBECK R et al. (1960) Selective vitamin B12 malabsorption and proteinuria in young people. A syndrome.
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11. |
Bouchlaka C et al. (2007) Genetic heterogeneity of megaloblastic anaemia type 1 in Tunisian patients.
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12. |
NCBI article
NCBI 81693
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13. |
OMIM.ORG article
Omim 605799
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14. |
Orphanet article
Orphanet ID 138568
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Update: 14. August 2020