Article
Functional Analysis of GLRX5 Mutants Reveals Distinct Functionalities of GLRX5 Protein.
Journal of cellular biochemistry - 1 Jan 2016
Liu Gang, Wang Yongwei, Anderson Gregory J, Camaschella Clara, Chang Yanzhong, Nie Guangjun
Abstract excerpt
Glutaredoxin 5 (GLRX5) is a 156 amino acid mitochondrial protein that plays an essential role in mitochondrial iron-sulfur cluster transfer. Mutations in this protein were reported to result in sideroblastic anemia and variant nonketotic hyperglycinemia in human. Recently, we have characterized a Chinese congenital sideroblastic anemia patient who has two compound heterozygous missense mutations (c. 301 A>C and...
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