GLRX5 Antibody, HRP conjugated

1. GLRX5 rs1007814 showed a statistically marginally significant difference between cases and controls in genotype frequency (case/control: CC 1:6; CT 112:78; TT 752:505, P=0.049361), but no significant differences in allele distribution [odds ratio (OR)=0.852805]In men, we found a minor difference in the genotype frequency (case/control: CC 0:3; CT 72:36; TT 411:280, P=0.037370) and not in allele distribution (OR=1.142857) PMID: 27893590
2. Patients with GLRX5-associated variant nonketotic hyperglycemia had normal development with childhood-onset spastic paraplegia, spinal lesion, and optic atrophy. PMID: 24334290
3. 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
4. Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts PMID: 20364084
5. No GLRX5 mutations were found among sixty CSA probands examined PMID: 19731322
6. Mutations in GLRX5 is associated with sideroblastic-like microcytic anemia and iron overload PMID: 17485548

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HGNC: 20134

OMIM: 609588

KEGG: hsa:51218

STRING: 9606.ENSP00000328570

UniGene: Hs.744943