Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Cubilin

Das CUBN-Gen kodiert den Proteinrezeptor Cubilin, der für die Aufnahme von Vitamin B12 im Darm und für die Wiederaufnahme glomerulär filtrierter Proteine im proximalen Tubulus verantwortlich ist. Mutationen führen zur autosomal rezessive Erkrankung der megaloblastären Anämie, die typischerweise mit einer tubulären Proteinurie einhergeht.

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.

Nykjaer A et. al. (2001) Cubilin dysfunction causes abnormal metabolism of the steroid hormone 25(OH) vitamin D(3).

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2.

Fyfe JC et. al. (1991) Inherited selective intestinal cobalamin malabsorption and cobalamin deficiency in dogs.

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3.

Aminoff M et. al. (1995) Selective intestinal malabsorption of vitamin B12 displays recessive mendelian inheritance: assignment of a locus to chromosome 10 by linkage.

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4.

Bork P et. al. (1993) The CUB domain. A widespread module in developmentally regulated proteins.

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5.

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

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6.

Seetharam B et. al. (1997) Identification of rat yolk sac target protein of teratogenic antibodies, gp280, as intrinsic factor-cobalamin receptor.

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7.

Birn H et. al. (1997) Characterization of an epithelial approximately 460-kDa protein that facilitates endocytosis of intrinsic factor-vitamin B12 and binds receptor-associated protein.

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8.

Moestrup SK et. al. (1998) The intrinsic factor-vitamin B12 receptor and target of teratogenic antibodies is a megalin-binding peripheral membrane protein with homology to developmental proteins.

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9.

Kozyraki R et. al. (1998) The human intrinsic factor-vitamin B12 receptor, cubilin: molecular characterization and chromosomal mapping of the gene to 10p within the autosomal recessive megaloblastic anemia (MGA1) region.

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10.

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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11.

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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12.

None (1999) Moonlighting proteins.

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13.

Kozyraki R et. al. (1999) The intrinsic factor-vitamin B12 receptor, cubilin, is a high-affinity apolipoprotein A-I receptor facilitating endocytosis of high-density lipoprotein.

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14.

Xu D et. al. (1999) Genetic evidence of an accessory activity required specifically for cubilin brush-border expression and intrinsic factor-cobalamin absorption.

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15.

Kristiansen M et. al. (2000) Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin.

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16.

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

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17.

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

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18.

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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19.

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

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20.

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

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21.

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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22.

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

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23.

Andersen CB et. al. (2010) Structural basis for receptor recognition of vitamin-B(12)-intrinsic factor complexes.

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24.

Storm T et. al. (2011) A patient with cubilin deficiency.

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