| UniProt Protein Function: | 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: mitochondrial matrix; mitochondrion Biological Process: hemopoiesis Disease: Anemia, Sideroblastic, Pyridoxine-refractory, Autosomal Recessive |
| UniProt Protein Details: | |
| NCBI Summary: | 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] |
| UniProt Code: | Q86SX6 |
| NCBI GenInfo Identifier: | 83288163 |
| NCBI Gene ID: | 51218 |
| NCBI Accession: | Q86SX6.2 |
| UniProt Secondary Accession: | Q86SX6,Q0X088, Q3YML0, Q86WY3, Q8IZ54 |
| UniProt Related Accession: | Q86SX6 |
| Molecular Weight: | 16,628 Da |
| NCBI Full Name: | Glutaredoxin-related protein 5, mitochondrial |
| NCBI Synonym Full Names: | glutaredoxin 5 |
| NCBI Official Symbol: | GLRX5 |
| NCBI Official Synonym Symbols: | GRX5; PRSA; SIDBA3; SPAHGC; FLB4739; PR01238; PRO1238; C14orf87 |
| NCBI Protein Information: | glutaredoxin-related protein 5, mitochondrial |
| UniProt Protein Name: | Glutaredoxin-related protein 5, mitochondrial |
| UniProt Synonym Protein Names: | Monothiol glutaredoxin-5 |
| Protein Family: | Glutaredoxin-related protein |
| UniProt Gene Name: | GLRX5 |
| UniProt Entry Name: | GLRX5_HUMAN |
