Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Imerslund-Grasbeck-Syndrom
AMN
CUBN

Referenzen:

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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