frataxin [Frataxin]

tematický
2
Termíny

protein frataxin
protein Friedrichovy ataxie

 

Frataxin Protein
Friedreich Ataxia Protein
FXN Frataxin

Perzistentní odkaz   https://www.medvik.cz/link/D000096923
Definice

Protein, jehož mutace způsobuje Friedreichovu ataxii (lokus 9q13 - často bývá expanze GAA v prvním intronu). Má význam při metabolismu železa v mitochondriích. (cit. Velký lékařský slovník online, 2024 http://lekarske.slovniky.cz/)

A protein involved in the transfer of iron and sulfur to iron-sulfur cluster (ISC) assembly complex for de novo synthesis of a [2Fe-2S] cluster, the first step of the mitochondrial iron-sulfur protein biogenesis. Deficiency leads to the neurodegenerative disease FRIEDREICH ATAXIA.

DUI
D000096923 MeSH Prohlížeč
CUI
M000762767
Historická pozn.
2024 (1996)
Veřejná pozn.
2024; FRATAXIN was indexed under IRON-BINDING PROTEINS 1996-2023

D Chemikálie a léčiva
D12.776 proteiny 2 581
D12.776.157 transportní proteiny 546
D12.776.157.427.374.375 proteiny obsahující železo a síru 27
D12.776.157.427.374.375.025 adrenodoxin
D12.776.157.427.374.375.150 ferredoxinnitritreduktasa
D12.776.157.427.374.375.275 ferredoxiny 14
D12.776.157.427.374.375.863 respirační komplex I 44
D12.776.157.427.374.375.909 respirační komplex II 20
D12.776.157.427.374.375.954 respirační komplex III 19
D12.776.157.427.374.375.957 ferrochelatasa 11
D12.776.157.427.374.375.959 frataxin 2
D12.776.157.427.374.375.960 regulační protein železa 1 1
D12.776.157.427.374.375.961 regulační protein železa 2 2
D12.776.157.427.374.375.977 nitrátreduktasa (NAD(P)H)
D12.776.157.427.374.375.988 nitrátreduktasa (NADPH) 1
D12.776.556 metaloproteiny 30
D12.776.556.579.374.375 proteiny obsahující železo a síru 27
D12.776.556.579.374.375.025 adrenodoxin
D12.776.556.579.374.375.140 respirační komplex I 44
D12.776.556.579.374.375.141 respirační komplex II 20
D12.776.556.579.374.375.142 respirační komplex III 19
D12.776.556.579.374.375.150 ferredoxinnitritreduktasa
D12.776.556.579.374.375.275 ferredoxiny 14
D12.776.556.579.374.375.617 ferrochelatasa 11
D12.776.556.579.374.375.789 frataxin 2
D12.776.556.579.374.375.960 regulační protein železa 1 1
D12.776.556.579.374.375.962 regulační protein železa 2 2
D12.776.556.579.374.375.977 nitrátreduktasa (NAD(P)H)
D12.776.556.579.374.375.988 nitrátreduktasa (NADPH) 1
D12.776.575.280 DNA polymeráza gama 3
D12.776.575.374 endopeptidasa Clp
D12.776.575.562 ferrochelatasa 11
D12.776.575.609 frataxin 2
D12.776.575.758 MPP peptidasa
D12.776.575.812 peroxiredoxin III 2
D12.776.575.844 prohibitiny 1
D12.776.575.875 sirtuin 3 5

FXN protein, human Chemical MeSH Prohlížeč

Fxn protein, mouse Chemical MeSH Prohlížeč

YFH1 protein, S cerevisiae Chemical MeSH Prohlížeč