Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Ferritin—schwere Kette

Das FTH1-Gen kodiert die schwere Kette des Ferritin, des wichtigsten intrazellulären Eisenspeicherproteins. Einige Promotormutationen werden mit der autosomal dominanten Hämochromatose Typ 5 in Zusammenhang gebracht.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
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 5
FTH1

Referenzen:

1.

Ferreira C et al. (2000) Early embryonic lethality of H ferritin gene deletion in mice.

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2.

Eisenstein RS et al. (2000) Iron regulatory proteins and the molecular control of mammalian iron metabolism.

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3.

Kato J et. al. (2001) A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload.

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4.

Ferreira C et al. (2001) H ferritin knockout mice: a model of hyperferritinemia in the absence of iron overload.

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5.

Papadopoulos P et al. (1992) A second human ferritin H locus on chromosome 11.

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6.

Pham CG et al. (2004) Ferritin heavy chain upregulation by NF-kappaB inhibits TNFalpha-induced apoptosis by suppressing reactive oxygen species.

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7.

Yachou AK et al. (1991) Mouse ferritin H multigene family is polymorphic and contains a single multiallelic functional gene located on chromosome 19.

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8.

Faniello MC et al. (2006) Detection and functional analysis of an SNP in the promoter of the human ferritin H gene that modulates the gene expression.

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9.

Sammarco MC et. al. (2008) Ferritin L and H subunits are differentially regulated on a post-transcriptional level.

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10.

Shi H et. al. (2008) A cytosolic iron chaperone that delivers iron to ferritin.

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11.

Yachou A et al. (1991) Mouse ferritin H sequences map to chromosomes 3, 6, and 19.

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12.

Li L et al. (2010) Binding and uptake of H-ferritin are mediated by human transferrin receptor-1.

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13.

Hasegawa S et al. (2013) Growth retardation and hair loss in transgenic mice overexpressing human H-ferritin gene.

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14.

Mancias JD et. al. (2014) Quantitative proteomics identifies NCOA4 as the cargo receptor mediating ferritinophagy.

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15.

Gatti RA et al. (1987) Human ferritin genes: chromosomal assignments and polymorphisms.

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16.

Costanzo F et al. (1986) Structure of gene and pseudogenes of human apoferritin H.

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17.

Hentze MW et. al. (1986) Cloning, characterization, expression, and chromosomal localization of a human ferritin heavy-chain gene.

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18.

Leibold EA et al. (1988) Cytoplasmic protein binds in vitro to a highly conserved sequence in the 5' untranslated region of ferritin heavy- and light-subunit mRNAs.

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19.

Youssoufian H et al. (1988) Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: assignment of a human ferritin gene.

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20.

Murray MT et al. (1987) Conservation of ferritin heavy subunit gene structure: implications for the regulation of ferritin gene expression.

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21.

Worwood M et. al. (1985) Assignment of human ferritin genes to chromosomes 11 and 19q13.3----19qter.

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22.

Cragg SJ et. al. (1985) Genes for the 'H' subunit of human ferritin are present on a number of human chromosomes.

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23.

Caskey JH et. al. (1983) Human ferritin gene is assigned to chromosome 19.

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24.

Boyd D et al. (1984) Isolation and characterization of a cDNA clone for human ferritin heavy chain.

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25.

Harrison PM et al. (1996) The ferritins: molecular properties, iron storage function and cellular regulation.

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26.

Courseaux A et. al. (1996) Definition of the minimal MEN1 candidate area based on a 5-Mb integrated map of proximal 11q13. The European Consortium on Men1, (GENEM 1; Groupe d'Etude des Néoplasies Endocriniennes Multiples de type 1).

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27.

Wu KJ et al. (1999) Coordinated regulation of iron-controlling genes, H-ferritin and IRP2, by c-MYC.

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