功能Monothiol glutaredoxin involved in the biogenesis of iron-sulfur clusters. Required for normal iron homeostasis. Required for normal regulation of hemoglobin synthesis by the iron-sulfur protein ACO1.
疾病相关Defects in GLRX5 are a cause of anemia sideroblastic pyridoxine-refractory autosomal recessive (PRARSA) [MIM:205950]. A form of sideroblastic anemia not responsive to pyridoxine. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus.
序列相似性Belongs to the glutaredoxin family. Monothiol subfamily. Contains 1 glutaredoxin domain.