GLRX5
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Glutaredoxin 5, also known as GLRX5, is a
iron- sulfur clusters, which are required for normal iron homeostasis. Mutations in this gene are associated with autosomal recessive pyridoxine-refractory sideroblastic anemia.[6]
Structure
The GLRX5 gene contains 2
Fe-S clusters buried in the interior.[8]
Function
GLRX5 is a
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]
Clinical significance
Mutations in the GLRX5 gene have been associated with
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]
See also
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000182512 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021102 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- S2CID 4333813.
- ^ "GLRX5 glutaredoxin 5 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2016-10-26.
- ^ PMID 20364084.
- PMID 21029046.
- S2CID 4333813.
- ^ PMID 17485548.
- S2CID 11780617.
- PMID 24334290.
Further reading
- Davis DA, Newcomb FM, Starke DW, Ott DE, Mieyal JJ, Yarchoan R (Oct 1997). "Thioltransferase (glutaredoxin) is detected within HIV-1 and can regulate the activity of glutathionylated HIV-1 protease in vitro". The Journal of Biological Chemistry. 272 (41): 25935–40. PMID 9325327.
- Camaschella C, Campanella A, De Falco L, Boschetto L, Merlini R, Silvestri L, Levi S, Iolascon A (Aug 2007). "The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload". Blood. 110 (4): 1353–8. PMID 17485548.
- Bergmann AK, Campagna DR, McLoughlin EM, Agarwal S, Fleming MD, Bottomley SS, Neufeld EJ (Feb 2010). "Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations". Pediatric Blood & Cancer. 54 (2): 273–8. PMID 19731322.
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