Hereditäre-Hämochromatose-Protein
(Weitergeleitet von HFE-Gen)
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{{#if: 326 Aminosäuren |
{{#if: single pass Membranrezeptor |
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{{#if: 10 |
{{#if: HFEQ30201235200 |
{{#if: HFE |
{{#if: Q30201235200 |
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{{#if: Säugetiere<ref>Homologe bei OMA</ref>{{#if: Q30201 | {{#ifeq: | NV ||1}}|}}|
{{#if: Q30201 | {{#ifeq: | NV || | style="background:#C3FDB8; color:#000000;" | Homologie-Familie
{{#if: Säugetiere<ref>Homologe bei OMA</ref> | | style="background:#C3FDB8; color:#000000;" | Übergeordnetes Taxon
{{#if: | | style="background:#C3FDB8; color:#000000;" | Ausnahmen
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| {{#if: | | Hereditäre-Hämochromatose-Protein }} | |||||||||||||
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| Eigenschaften des menschlichen Proteins
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| Masse/Länge Primärstruktur | 326 Aminosäuren
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| Sekundär- bis Quartärstruktur | single pass Membranrezeptor
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| Isoformen | 10
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| {{#if: | Gen-Namen | Gen-Name}} | Gen-Name(n) }} | {{#if:4886 | HFE | HFE}}{{#if: |, }} }} | ||||||||||||
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| DrugBank | [2]
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| TCDB | [3]
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| {{#if: | [ {{#if: | Hovergen}}] | [http://hogenom.univ-lyon1.fr/query_sequence?seq=Q30201 {{#if: | Hovergen}}]}} }} }} | |||||||||
| Säugetiere<ref>Homologe bei OMA</ref> }} | |||||||||||||
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Das hereditäre-Hämochromatose-Protein (HFE-Protein) (Gen-Name: HFE; High Fe, deutsch etwa "viel Eisen") ist ein Protein in der Zellmembran von Säugetieren, das an den Transferrin-Rezeptor 2 bindet und dazu führt, dass das Transferrin leichter von diesem dissoziiert, also schwächer gebunden wird. Diese Interaktion ist notwendig für die durch Transferrin ausgelöste Expression von Hepcidin. Das Protein spielt so eine zentrale Rolle im Eisenstoffwechsel.<ref name="u">{{#if: | | UniProt }} {{#if:|{{{titel}}}|Q30201}}{{#if:|Vorlage:Abrufdatum}}</ref><ref>{{#invoke:Vorlage:Literatur|f}}{{#if:
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Im Mensch wird HFE-Protein überall, außer im Gehirn gebildet. Mutationen im HFE-Gen können zur hereditären Hämochromatose führen, der häufigsten rezessiven Erbkrankheit bei Europäern, aber auch zu Porphyria cutanea tarda oder zu erhöhtem Risiko für diabetische Nephropathie. Strukturell ist das Protein nahe verwandt mit den MHC-I-Proteinen.<ref name="u" />
Weiterführende Literatur
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}}Vorlage:Cite book/URL{{#if: | Vorlage:Cite book/Meldung }}{{#if: | Vorlage:Cite book/Meldung }}{{#if: World J. Gastroenterol.
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Einzelnachweise
<references />