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Article

The structure and function of frataxin.

Critical reviews in biochemistry and molecular biology - 1 Jan 2000

Bencze Krisztina Z, Kondapalli Kalyan C, Cook Jeremy D, McMahon Stephen, Millán-Pacheco César, Pastor Nina, Stemmler Timothy L

Abstract excerpt

Frataxin, a highly conserved protein found in prokaryotes and eukaryotes, is required for efficient regulation of cellular iron homeostasis. Humans with a frataxin deficiency have the cardio- and neurodegenerative disorder Friedreich's ataxia, commonly resulting from a GAA trinucleotide repeat expansion in the frataxin gene. While frataxin's specific function remains a point of controversy, the general consensus...

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Identifiers

PMID: 16911956
DOI: 10.1080/10409230600846058
PMCID: PMC2859089

Genes

GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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