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.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Worwood M et al. (1985) Assignment of human ferritin genes to chromosomes 11 and 19q13.3----19qter.
|
2. |
Wu KJ et al. (1999) Coordinated regulation of iron-controlling genes, H-ferritin and IRP2, by c-MYC.
|
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).
|
4. |
Harrison PM et al. (1996) The ferritins: molecular properties, iron storage function and cellular regulation.
|
5. |
Boyd D et al. (1984) Isolation and characterization of a cDNA clone for human ferritin heavy chain.
|
6. |
Murray MT et al. (1987) Conservation of ferritin heavy subunit gene structure: implications for the regulation of ferritin gene expression.
|
7. |
Youssoufian H et al. (1988) Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: assignment of a human ferritin gene.
|
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.
|
9. |
Costanzo F et al. (1986) Structure of gene and pseudogenes of human apoferritin H.
|
10. |
Gatti RA et al. (1987) Human ferritin genes: chromosomal assignments and polymorphisms.
|
11. |
Hasegawa S et al. (2013) Growth retardation and hair loss in transgenic mice overexpressing human H-ferritin gene.
|
12. |
Li L et al. (2010) Binding and uptake of H-ferritin are mediated by human transferrin receptor-1.
|
13. |
Yachou A et al. (1991) Mouse ferritin H sequences map to chromosomes 3, 6, and 19.
|
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.
|
15. |
Yachou AK et al. (1991) Mouse ferritin H multigene family is polymorphic and contains a single multiallelic functional gene located on chromosome 19.
|
16. |
Pham CG et al. (2004) Ferritin heavy chain upregulation by NF-kappaB inhibits TNFalpha-induced apoptosis by suppressing reactive oxygen species.
|
17. |
Papadopoulos P et al. (1992) A second human ferritin H locus on chromosome 11.
|
18. |
Ferreira C et al. (2001) H ferritin knockout mice: a model of hyperferritinemia in the absence of iron overload.
|
19. |
None (2000) Iron regulatory proteins and the molecular control of mammalian iron metabolism.
|
20. |
Ferreira C et al. (2000) Early embryonic lethality of H ferritin gene deletion in mice.
|
21. |
Mancias JD et al. (2014) Quantitative proteomics identifies NCOA4 as the cargo receptor mediating ferritinophagy.
|
22. |
Shi H et al. (2008) A cytosolic iron chaperone that delivers iron to ferritin.
|
23. |
Sammarco MC et al. (2008) Ferritin L and H subunits are differentially regulated on a post-transcriptional level.
|
24. |
Kato J et al. (2001) A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload.
|
25. |
Caskey JH et al. (1983) Human ferritin gene is assigned to chromosome 19.
|
26. |
Cragg SJ et al. (1985) Genes for the 'H' subunit of human ferritin are present on a number of human chromosomes.
|
27. |
Hentze MW et al. (1986) Cloning, characterization, expression, and chromosomal localization of a human ferritin heavy-chain gene.
|
28. |
Orphanet article
Orphanet ID 159608
|
29. |
NCBI article
NCBI 2495
|
30. |
OMIM.ORG article
Omim 134770
|
Update: 14. August 2020