Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.

doi:10.1016/j.ajhg.2013.09.011

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Article

Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.

American journal of human genetics - 7 Nov 2013

Hildick-Smith Gordon J, Cooney Jeffrey D, Garone Caterina, Kremer Laura S, Haack Tobias B, Thon Jonathan N, Miyata Non, Lieber Daniel S, Calvo Sarah E, Akman H Orhan, Yien Yvette Y, Huston Nicholas C, Branco Diana S, Shah Dhvanit I, Freedman Matthew L, Koehler Carla M, Italiano Joseph E, Merkenschlager Andreas, Beblo Skadi, Strom Tim M, Meitinger Thomas, Freisinger Peter, Donati M Alice, Prokisch Holger, Mootha Vamsi K, DiMauro Salvatore, Paw Barry H

Abstract excerpt

We used exome sequencing to identify mutations in sideroflexin 4 (SFXN4) in two children with mitochondrial disease (the more severe case also presented with macrocytic anemia). SFXN4 is an uncharacterized mitochondrial protein that localizes to the mitochondrial inner membrane. sfxn4 knockdown in zebrafish recapitulated the mitochondrial respiratory defect observed in both individuals and the macrocytic anemia...

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Identifiers

PMID: 24119684
DOI: 10.1016/j.ajhg.2013.09.011
PMCID: PMC3824126

Genes

SFXN4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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