GLRX5 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | GLRX5, C14orf87, FLB4739, GRX5, PR01238, PRO1238, PRSA, SIDBA3, SPAHGC, glutaredoxin 5 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 609588; MGI: 1920296; HomoloGene: 31984; GeneCards: GLRX5; OMA:GLRX5 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Glutaredoxin 5, also known as GLRX5, is a protein which in humans is encoded by the GLRX5 gene located on chromosome 14.[5] 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.[6]
The GLRX5 gene contains 2 exons and encodes for a protein that is 13 kDa in size. The protein is highly expressed in erythroid cells.[7] Crystal structure of the GLRX5 protein reveals that the protein likely exists as a tetramer with two Fe-S clusters buried in the interior.[8]
GLRX5 is a mitochondrial protein is conserved evolutionarily and plays a role in the formation of iron-sulfur clusters, which function to maintain iron homeostasis within the mitochondria and in the cell. GLRX5 is required for the steps in haem synthesis that involves mitochondrial enzymes,[9] and is therefore involved in hematopoiesis. GLRX5 activity is required for normal regulation of hemoglobin synthesis by the iron-sulfur protein ACO1. The function of GLRX5 is highly conserved evolutionarily.[10]
Mutations in the GLRX5 gene have been associated with sideroblastic anemia,[11] variant glycine encephalopathy (also known as non-ketotic hyperglycinemia, NKH).[12] as well as pyridoxine-refractory, autosomal recessive anemia (PRARSA).[10] Cells with mutations in GLRX5 activity show deficiency in Fe-S cluster synthesis, which is likely causative of the observed symptoms.[7]
Other oxidoreductases (EC 1.15–1.21)
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1.15: Acting on superoxide as acceptor |
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1.16: Oxidizing metal ions |
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1.17: Acting on CH or CH2 groups |
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1.18: Acting on iron–sulfur proteins as donors |
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1.19: Acting on reduced flavodoxin as donor |
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1.20: Acting on phosphorusorarsenic in donors |
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1.21: Acting on X-H and Y-H to form an X-Y bond |
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This article on a gene on human chromosome 14 is a stub. You can help Wikipedia by expanding it. |