GLRX5

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Glutaredoxin 5
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols GLRX5 ; C14orf87; FLB4739; GRX5; PR01238; PRO1238
External IDs OMIM609588 MGI1920296 HomoloGene31984 GeneCards: GLRX5 Gene
Orthologs
Species Human Mouse
Entrez 51218 73046
Ensembl ENSG00000182512 ENSMUSG00000021102
UniProt Q86SX6 Q80Y14
RefSeq (mRNA) NM_016417 NM_028419
RefSeq (protein) NP_057501 NP_082695
Location (UCSC) Chr 14:
96 – 96.01 Mb
Chr 12:
105.03 – 105.04 Mb
PubMed search [1] [2]

Glutaredoxin 5 also known as GLRX5 is a protein which in humans is encoded by the GLRX5 gene.[1]

Clinical significance[edit]

Mutations in the GLRX5 gene have been associated with sideroblastic anemia[2] and variant NKH.[3]

See also[edit]

References[edit]

  1. ^ Wingert RA, Galloway JL, Barut B, Foott H, Fraenkel P, Axe JL, Weber GJ, Dooley K, Davidson AJ, Schmid B, Schmidt B, Paw BH, Shaw GC, Kingsley P, Palis J, Schubert H, Chen O, Kaplan J, Zon LI (August 2005). "Deficiency of glutaredoxin 5 reveals Fe-S clusters are required for vertebrate haem synthesis". Nature 436 (7053): 1035–39. doi:10.1038/nature03887. PMID 16110529. 
  2. ^ Camaschella C (September 2008). "Recent advances in the understanding of inherited sideroblastic anaemia". Br. J. Haematol. 143 (1): 27–38. doi:10.1111/j.1365-2141.2008.07290.x. PMID 18637800. 
  3. ^ Baker PR 2nd, Friederich MW, Swanson MA, Shaikh T, Bhattacharya K, Scharer GH, Aicher J, Creadon-Swindell G, Geiger E, MacLean KN, Lee WT, Deshpande C, Freckmann ML, Shih LY, Wasserstein M, Rasmussen MB, Lund AM, Procopis P, Cameron JM, Robinson BH, Brown GK, Brown RM, Compton AG, Dieckmann CL, Collard R, Coughlin CR 2nd, Spector E, Wempe MF, Van Hove JL (February 2014). "Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5". Brain 137 (2): 366–379. doi:10.1093/brain/awt328. PMID 24334290. 

Further reading[edit]