Molekulargenetisches Labor
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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.

Gentests:

Forschung Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Imerslund-Grasbeck-Syndrom
AMN
CUBN

Referenzen:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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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6.

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

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7.

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

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8.

None (1999) Moonlighting proteins.

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9.

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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10.

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

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11.

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

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12.

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

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13.

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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14.

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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15.

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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16.

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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17.

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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18.

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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19.

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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20.

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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21.

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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22.

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

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23.

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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24.

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

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25.

Orphanet article

Orphanet ID 120903 external link
26.

NCBI article

NCBI 8029 external link
27.

OMIM.ORG article

Omim 602997 external link
28.

Wikipedia Artikel

Wikipedia DE (Cubilin) external link
Update: 14. August 2020
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