Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Ferritin heavy chain

The FTH1 gene encodes the heavy chain of the ferritin molecule, the most important intracellular iron storage protein. Promotor mutations are responsible for autosomal dominant hemochromatosis 5.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Hemochromatosis 5
FTH1

References:

1.

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

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2.

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

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3.

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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4.

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

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5.

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

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6.

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

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7.

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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8.

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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9.

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

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10.

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

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11.

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

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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.

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

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14.

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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15.

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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16.

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

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17.

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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18.

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

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19.

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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20.

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

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21.

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

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22.

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

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23.

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

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24.

None (2000) Iron regulatory proteins and the molecular control of mammalian iron metabolism.

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25.

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

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26.

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

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27.

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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28.

Orphanet article

Orphanet ID 159608 external link
29.

NCBI article

NCBI 2495 external link
30.

OMIM.ORG article

Omim 134770 external link
31.

Wikipedia article

Wikipedia EN (FTH1) external link
Update: Aug. 14, 2020
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