Description
Product Characteristics: Defects in GLRX5 are the cause of anemia sideroblastic pyridoxine-refractory autosomal recessive (PRARSA). The specific function of GLRX5 is not yet known.
Target Information: This gene encodes a mitochondrial protein, which is evolutionarily conserved. It is involved in the biogenesis of iron-sulfur clusters, which are required for normal iron homeostasis. Mutations in this gene are associated with autosomal recessive pyridoxine-refractory sideroblastic anemia. [provided by RefSeq, May 2010]