Article
Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes.
Human molecular genetics - 15 Nov 2013
Lim Sze Chern, Friemel Martin, Marum Justine E, Tucker Elena J, Bruno Damien L, Riley Lisa G, Christodoulou John, Kirk Edwin P, Boneh Avihu, DeGennaro Christine M, Springer Michael, Mootha Vamsi K, Rouault Tracey A, Leimkühler Silke, Thorburn David R, Compton Alison G
Abstract excerpt
Iron-sulfur clusters (ISCs) are important prosthetic groups that define the functions of many proteins. Proteins with ISCs (called iron-sulfur or Fe-S proteins) are present in mitochondria, the cytosol, the endoplasmic reticulum and the nucleus. They participate in various biological pathways including oxidative phosphorylation (OXPHOS), the citric acid cycle, iron homeostasis, heme biosynthesis and DNA repair....
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