GLRX5
Glutaredoxin 5 also known as GLRX5 is a protein which in humans is encoded by the GLRX5 gene.[1]
Clinical significance
Mutations in the GLRX5 gene have been associated with sideroblastic anemia.[2]
See also
References
- ^ 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.
- ^ 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.
Further reading
- .
- Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- Davis DA, Newcomb FM, Starke DW, et al. (1997). "Thioltransferase (glutaredoxin) is detected within HIV-1 and can regulate the activity of glutathionylated HIV-1 protease in vitro.". J. Biol. Chem. 272 (41): 25935–40. doi:10.1074/jbc.272.41.25935. PMID 9325327.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
- Camaschella C, Campanella A, De Falco L, et al. (2007). "The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload.". Blood 110 (4): 1353–8. doi:10.1182/blood-2007-02-072520. PMID 17485548.
- Bergmann AK, Campagna DR, McLoughlin EM, et al. (2010). "Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations.". Pediatr Blood Cancer 54 (2): 273–8. doi:10.1002/pbc.22244. PMC 2843911. PMID 19731322. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2843911.
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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 phosphorus or arsenic 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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B enzm: 1.1/2/3/4/5/6/7/8/10/11/13/14/15-18, 2.1/2/3/4/5/6/7/8, 2.7.10, 2.7.11-12, 3.1/2/3/4/5/6/7, 3.1.3.48, 3.4.21/22/23/24, 4.1/2/3/4/5/6, 5.1/2/3/4/99, 6.1-3/4/5-6
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