Frataxin

Frataxin

Engelsk definition

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.

Svenska synonymer

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Engelska synonymer

Friedreich Ataxia Protein Ataxia Protein, Friedreich Protein, Friedreich Ataxia FXN Frataxin Frataxin, FXN Frataxin Protein Protein, Frataxin