KLF1
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Krueppel-like factor 1 is a protein that in humans is encoded by the KLF1 gene. The gene for KLF1 is on the human chromosome 19 and on mouse chromosome 8. Krueppel-like factor 1 is a transcription factor that is necessary for the proper maturation of erythroid (red blood) cells.
Structure
The molecule has two domains; the transactivation domain and the chromatin-remodeling domain. The carboxyl (C) terminal is composed of three C2H2 zinc fingers that binds to DNA, and the amino (N) terminus is proline rich and acidic.[1]
Function
KLF1 has been linked to three main processes that are all essential to transcription of the β globin gene:
- Chromatin remodeling
- Modulation of the gamma to beta globin switch
- Transcriptional activation
KLF1 binds specifically to the CACC motif of the β globin gene promoter.[2] When natural mutations occur in the promoter, β+ thalassemia can arise in humans. Thalassemia's prevalence (2 million worldwide carry the trait) makes KLF1 clinically significant.
Clinical significance
KLF1 deficient (knockout) mouse embryos exhibit a lethal anemic phenotype, fail to promote the transcription of adult β globin, and die by embryonic day 1.[3] On the other hand, over-expression of KLF1 results in a reduction of the number of circulating platelets and hastens the onset of β globin gene.[4]
References
External links
- Cooley's Anemia Foundation. About Thalassemia [Internet]. New York, NY: Cooley's Anemia Foundation National Office; 2001 [1 August 2007] . Available from: http://cooleysanemia.org/sections.php?sec=1&tab=8
