Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Imerslund-Grasbeck syndrome
AMN
CUBN

References:

1.

Wang X et. al. (1996) A candidate gene for the amnionless gastrulation stage mouse mutation encodes a TRAF-related protein.

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2.

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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3.

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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4.

None (1999) Moonlighting proteins.

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5.

None (2001) The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases.

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6.

Dunn NR et. al. (2001) How does the mouse get its trunk?

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7.

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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8.

Tanner SM et. al. (2003) Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia.

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9.

GRASBECK R et. al. (1960) Selective vitamin B12 malabsorption and proteinuria in young people. A syndrome.

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10.

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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11.

Bouchlaka C et. al. (2007) Genetic heterogeneity of megaloblastic anaemia type 1 in Tunisian patients.

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Update: Sept. 26, 2018