GLRX5 Chromosome 14
Glutaredoxin 5
Upload your DNA to see your personal genotypes for variants in GLRX5.
What This Gene Does
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]
Gene Info
Gene Group
"Glutaredoxin domain containing|Mitochondrial iron-sulfur assembly components"
Locus Type
gene with protein product
Location
14q32.13
Ensembl
ENSG00000182512
Associated Conditions (2)
Spasticity-ataxia-gait anomalies syndrome
Sideroblastic anemia 3
Key Variants
RS577438813
Conflicting classifications of pathogenicity
Health Risk
RS869320757
Likely pathogenic
Spasticity-ataxia-gait anomalies syndrome, Spasticity-ataxia-gait anomalies syndrome
Health Risk
RS121908584
Pathogenic
Sideroblastic anemia 3, Sideroblastic anemia 3
Health Risk
RS1891344853
Pathogenic
Sideroblastic anemia 3, Sideroblastic anemia 3
Health Risk
RS2139646713
Pathogenic
Spasticity-ataxia-gait anomalies syndrome, Spasticity-ataxia-gait anomalies syndrome
Health Risk
RS765487627
Pathogenic
Sideroblastic anemia 3, Sideroblastic anemia 3
Health Risk
RS869312752
Pathogenic
Sideroblastic anemia 3, Sideroblastic anemia 3
Health Risk
RS869320758
Pathogenic
Spasticity-ataxia-gait anomalies syndrome, Spasticity-ataxia-gait anomalies syndrome
Health Risk
RS891111781
Pathogenic
Sideroblastic anemia 3, Sideroblastic anemia 3
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS577438813 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS869320757 | Health Risk | Likely pathogenic | Spasticity-ataxia-gait anomalies syndrome, Spasticity-ataxia-gait anomalies syndrome |
| RS121908584 | Health Risk | Pathogenic | Sideroblastic anemia 3, Sideroblastic anemia 3 |
| RS1891344853 | Health Risk | Pathogenic | Sideroblastic anemia 3, Sideroblastic anemia 3 |
| RS2139646713 | Health Risk | Pathogenic | Spasticity-ataxia-gait anomalies syndrome, Spasticity-ataxia-gait anomalies syndrome |
| RS765487627 | Health Risk | Pathogenic | Sideroblastic anemia 3, Sideroblastic anemia 3 |
| RS869312752 | Health Risk | Pathogenic | Sideroblastic anemia 3, Sideroblastic anemia 3 |
| RS869320758 | Health Risk | Pathogenic | Spasticity-ataxia-gait anomalies syndrome, Spasticity-ataxia-gait anomalies syndrome |
| RS891111781 | Health Risk | Pathogenic | Sideroblastic anemia 3, Sideroblastic anemia 3 |