GLRX5 Antibody – Mouse Monoclonal

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]

GLRX5: 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. Defects in GLRX5 are a cause of anemia sideroblastic pyridoxine-refractory autosomal recessive (PRARSA). 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. Belongs to the glutaredoxin family. Monothiol subfamily.

Protein type: Oxidoreductase

Chromosomal Location of Human Ortholog: 14q32.13

Cellular Component: mitochondrion; nucleus

Molecular Function: 2 iron, 2 sulfur cluster binding; electron carrier activity; metal ion binding; protein disulfide oxidoreductase activity

Biological Process: cell redox homeostasis; hemopoiesis

Disease: Anemia, Sideroblastic, Pyridoxine-refractory, Autosomal Recessive