Protein amnionless
The AMN gene encodes a cofactor by which the protein receptor cubilin can be internalized. In the intestine, deficiency result in a lack of resoption of vitamin B12 and in proximal tubule to proteinuria. Mutations cause autosomal recessive megaloblastic anemia.
Genetests:
Research |
Method |
Carrier testing |
Turnaround |
5 days |
Specimen type |
genomic DNA |
Related Diseases:
References:
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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15. |
Wikipedia article
Wikipedia EN (Amnionless)
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Update: Aug. 14, 2020