Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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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.

Gentests:

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

Verknüpfte Erkrankungen:

Hämochromatose 4
SLC40A1

Referenzen:

1.

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

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2.

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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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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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9.

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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10.

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

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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.

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

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13.

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

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14.

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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15.

None (2000) Assignment of Slc11a3 to mouse chromosome 1 band 1B and SLC11A3 to human chromosome 2q32 by in situ hybridization.

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16.

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

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17.

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

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18.

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

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19.

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

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20.

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

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21.

NCBI article

NCBI 30061 external link
22.

OMIM.ORG article

Omim 604653 external link
23.

Orphanet article

Orphanet ID 119486 external link
24.

Wikipedia Artikel

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