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GLRX5 is a monothiol glutaredoxin involved in mitochondrial iron-sulfur (Fe/S) cluster transfer. It receives 2Fe/2S clusters from the scaffold protein ISCU and facilitates their transfer to apoproteins, the 4Fe/FS cluster biosynthesis machinery, or export from the mitochondrion. GLRX5 is essential for the normal regulation of hemoglobin synthesis by the iron-sulfur protein ACO1.
Gene References Into Functions
The GLRX5 rs1007814 genotype showed a statistically marginally significant difference between cases and controls (case/control: CC 1:6; CT 112:78; TT 752:505, P=0.049361). However, no significant differences were observed in allele distribution [odds ratio (OR)=0.852805]. In men, a minor difference was found in the genotype frequency (case/control: CC 0:3; CT 72:36; TT 411:280, P=0.037370), but not in allele distribution (OR=1.142857). PMID: 27893590
Patients with GLRX5-associated variant nonketotic hyperglycemia exhibited normal development with childhood-onset spastic paraplegia, spinal lesion, and optic atrophy. PMID: 24334290
The crystal structure of GLRX5 revealed a tetrameric organization with the [2Fe-2S] clusters buried in the interior and shielded from the solvent by the conserved beta1-alpha2 loop. PMID: 21029046
Glutaredoxin 5 deficiency leads to sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts. PMID: 20364084
No GLRX5 mutations were found among sixty CSA probands examined. PMID: 19731322
Mutations in GLRX5 are associated with sideroblastic-like microcytic anemia and iron overload. PMID: 17485548