ABCMdb

ABCB7 p.Ala294Gly

Predicted by SNAP2:	C: D (63%), D: D (80%), E: D (80%), F: D (75%), G: N (53%), H: D (75%), I: D (66%), K: D (80%), L: D (71%), M: D (53%), N: D (71%), P: D (85%), Q: D (75%), R: D (75%), S: N (82%), T: N (57%), V: D (66%), W: D (85%), Y: D (80%),
Predicted by PROVEAN:	C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D,

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[hide] Human iron-sulfur cluster assembly, cellular iron ... Biochemistry. 2010 Jun 22;49(24):4945-56. Ye H, Rouault TA
Human iron-sulfur cluster assembly, cellular iron homeostasis, and disease.
Biochemistry. 2010 Jun 22;49(24):4945-56., [PMID:20481466]

Abstract [show]
Iron-sulfur (Fe-S) proteins contain prosthetic groups consisting of two or more iron atoms bridged by sulfur ligands, which facilitate multiple functions, including redox activity, enzymatic function, and maintenance of structural integrity. More than 20 proteins are involved in the biosynthesis of iron-sulfur clusters in eukaryotes. Defective Fe-S cluster synthesis not only affects activities of many iron-sulfur enzymes, such as aconitase and succinate dehydrogenase, but also alters the regulation of cellular iron homeostasis, causing both mitochondrial iron overload and cytosolic iron deficiency. In this work, we review human Fe-S cluster biogenesis and human diseases that are caused by defective Fe-S cluster biogenesis. Fe-S cluster biogenesis takes place essentially in every tissue of humans, and products of human disease genes, including frataxin, GLRX5, ISCU, and ABCB7, have important roles in the process. However, the human diseases, Friedreich ataxia, glutaredoxin 5-deficient sideroblastic anemia, ISCU myopathy, and ABCB7 sideroblastic anemia/ataxia syndrome, affect specific tissues, while sparing others. Here we discuss the phenotypes caused by mutations in these different disease genes, and we compare the underlying pathophysiology and discuss the possible explanations for tissue-specific pathology in these diseases caused by defective Fe-S cluster biogenesis.

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No. Sentence Comment
136 The patient has a homozygous A294G mutation in the third nucleotide of the last codon of GLRX5 exon 1. Login to comment
137 The patient has a homozygous A294G mutation in the third nucleotide of the last codon of GLRX5 exon 1. Login to comment