Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Eisen-regulierter Transporter

Das SLC40A1-Gen kodiert ein Transportprotein, welches in der basolateralen Membran der Enterozyten für die Abgabe des resorbierten Eisens verantwortlich ist. Mutationen führen zur autosomal dominanten Hämachromatose 4, die einen recht milden Verlauf zeigt.

Diagnostik:

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

Krankheiten:

Hämochromatose 4
SLC40A1

Referenzen:

1.

Pietrangelo A et. al. (1999) Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene.

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2.

Njajou OT et. al. (2001) A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.

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3.

Montosi G et. al. (2001) Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene.

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4.

De Domenico I et. al. (2005) The molecular basis of ferroportin-linked hemochromatosis.

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5.

Cremonesi L et. al. (2005) Genetic and clinical heterogeneity of ferroportin disease.

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6.

Donovan A et al. (2000) Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter.

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7.

Haile DJ et al. (2000) Assignment of Slc11a3 to mouse chromosome 1 band 1B and SLC11A3 to human chromosome 2q32 by in situ hybridization.

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8.

McKie AT et al. (2000) A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation.

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9.

Fleming RE et al. (2001) Ferroportin mutation in autosomal dominant hemochromatosis: loss of function, gain in understanding.

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10.

Wallace DF et al. (2002) Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis.

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11.

Devalia V et al. (2002) Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3).

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12.

Roetto A et al. (2002) A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4.

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13.

Cazzola M et al. (2002) Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3).

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14.

Hetet G et al. (2003) Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations.

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15.

Nemeth E et al. (2004) Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization.

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16.

Donovan A et al. (2005) The iron exporter ferroportin/Slc40a1 is essential for iron homeostasis.

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17.

Agarwal S et al. (2006) Ferroportin (SLC40A1) gene in thalassemic patients of Indian descent.

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18.

Zohn IE et al. (2007) The flatiron mutation in mouse ferroportin acts as a dominant negative to cause ferroportin disease.

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19.

Sangokoya C et al. (2013) Iron-responsive miR-485-3p regulates cellular iron homeostasis by targeting ferroportin.

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20.

Nairz M et al. (2013) Nitric oxide-mediated regulation of ferroportin-1 controls macrophage iron homeostasis and immune function in Salmonella infection.

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