Gene Symbol | GLRX5 |
Entrez Gene ID | 51218 |
Full Name | glutaredoxin 5 |
Synonyms | C14orf87,FLB4739,GRX5,PR01238,PRO1238,PRSA,SIDBA3,SPAHGC |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Anemia, sideroblastic, 3, pyridoxine-refractory, 616860 (3); Spasticity, childhood-onset, with hyperglycinemia, 616859 (3) |