FOXD3
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Forkhead box D3 also known as FOXD3 is a forkhead protein that in humans is encoded by the FOXD3 gene.[3]
Function
This gene belongs to the forkhead protein family of transcription factors which is characterized by a DNA-binding forkhead domain. FoxD3 functions as a transcriptional repressor and contains the C-terminal engrailed homology-1 motif (eh1), which provides an interactive surface with a transcriptional co-repressor Grg4 (Groucho-related gene-4).[4]
Clinical significance
Mutations in this gene cause vitiligo.[5]
References
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- ↑ Hromas R, Moore J, Johnston T, Socha C, Klemsz M (June 1993). "Drosophila forkhead homologues are expressed in a lineage-restricted manner in human hematopoietic cells". Blood. 81 (11): 2854–9. PMID 8499623.
- ↑ Yaklichkin S, Steiner AB, Lu Q, Kessler DS (2007). "FoxD3 and Grg4 physically interact to repress transcription and induce mesoderm in Xenopus.". J Biol Chem. 282 (4): 2548–5. doi:10.1074/jbc.M607412200. PMC 1780074
. PMID 17138566. - ↑ Alkhateeb A, Fain PR, Spritz RA (August 2005). "Candidate functional promoter variant in the FOXD3 melanoblast developmental regulator gene in autosomal dominant vitiligo". J. Invest. Dermatol. 125 (2): 388–91. doi:10.1111/j.0022-202X.2005.23822.x. PMID 16098053.
Further reading
- Guo Y, Costa R, Ramsey H, et al. (2002). "The embryonic stem cell transcription factors Oct-4 and FoxD3 interact to regulate endodermal-specific promoter expression.". Proc. Natl. Acad. Sci. U.S.A. 99 (6): 3663–7. doi:10.1073/pnas.062041099. PMC 122580. PMID 11891324.
- Levy D, Larson MG, Benjamin EJ, et al. (2007). "Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.". BMC Med. Genet. 8 Suppl 1: S3. doi:10.1186/1471-2350-8-S1-S3. PMC 1995621. PMID 17903302.
- Saleem RA, Banerjee-Basu S, Berry FB, et al. (2001). "Analyses of the effects that disease-causing missense mutations have on the structure and function of the winged-helix protein FOXC1.". American Journal of Human Genetics. 68 (3): 627–41. doi:10.1086/318792. PMC 1274476. PMID 11179011.
- Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1.". Nature. 441 (7091): 315–21. doi:10.1038/nature04727. PMID 16710414.
- Buescher JL, Martinez LB, Sato S, et al. (2009). "YY1 and FoxD3 regulate antiretroviral zinc finger protein OTK18 promoter activation induced by HIV-1 infection.". J Neuroimmune Pharmacol. 4 (1): 103–15. doi:10.1007/s11481-008-9139-x. PMC 2680142. PMID 19034670.
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