Article
Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemia.
The Journal of clinical investigation - 1 Oct 2020
Crispin Andrew, Guo Chaoshe, Chen Caiyong, Campagna Dean R, Schmidt Paul J, Lichtenstein Daniel, Cao Chang, Sendamarai Anoop K, Hildick-Smith Gordon J, Huston Nicholas C, Boudreaux Jeanne, Bottomley Sylvia S, Heeney Matthew M, Paw Barry H, Fleming Mark D, Ducamp Sarah
Abstract excerpt
The congenital sideroblastic anemias (CSAs) can be caused by primary defects in mitochondrial iron-sulfur (Fe-S) cluster biogenesis. HSCB (heat shock cognate B), which encodes a mitochondrial cochaperone, also known as HSC20 (heat shock cognate protein 20), is the partner of mitochondrial heat shock protein A9 (HSPA9). Together with glutaredoxin 5 (GLRX5), HSCB and HSPA9 facilitate the transfer of nascent 2-iron,...
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