GLRX5 gene

glutaredoxin 5

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Monothiol glutaredoxin involved in the biogenesis of iron-sulfur clusters (PubMed:20364084). Required for normal iron homeostasis. Required for normal regulation of hemoglobin synthesis by the iron-sulfur protein ACO1 (PubMed:20364084). May protect cells against apoptosis due to reactive oxygen species and oxidative stress.

From NCBI Gene:

  • Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
  • Sideroblastic anemia 3, pyridoxine-refractory
  • Spasticity, childhood-onset, with hyperglycinemia

From UniProt:

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. [MIM:205950]

Cytogenetic Location: 14q32.13, which is the long (q) arm of chromosome 14 at position 32.13

Molecular Location: base pairs 95,534,986 to 95,544,718 on chromosome 14 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 14q32.13, which is the long (q) arm of chromosome 14 at position 32.13
  • C14orf87
  • FLB4739
  • GRX5
  • PR01238
  • PRO1238
  • PRSA
  • SIDBA3
  • SPAHGC