SIX homeobox 1
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L SIX1 gene is part of a group of similar genes known as the SIX gene family. Genes in this family provide instructions for making proteins that bind to DNA and control the activity of other genes. Based on this role, SIX proteins are called transcription factors.
Normal function
L SIX1 gene is part of a group of similar genes known as the SIX gene family. Genes in this family provide instructions for making proteins that bind to DNA and control the activity of other genes. Based on this role, SIX proteins are called transcription factors.
The SIX1 protein interacts with several other proteins, including the protein produced from the EYA1 gene, to regulate the activity of genes that are important for normal development. Before birth, these protein interactions appear to be essential for the normal formation of many tissues. These include the second branchial arch, which gives rise to tissues in the front and side of the neck; the ears; the kidneys; the nose; a gland called the thymus that is part of the immune system; and muscles used for movement (skeletal muscles).
Conditions referring to this gene or chromosome
Altri nomi
BOS3
homeobox protein SIX1
sine oculis homeobox (Drosophila) homolog 1
sine oculis homeobox homolog 1
sine oculis homeobox homolog 1 (Drosophila)
SIX1_HUMAN
TIP39
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Ulteriori letture e riferimenti
- SIX homeobox 1; MedlinePlus, National Library of Medicine.
- Kochhar A, Orten DJ, Sorensen JL, Fischer SM, Cremers CW, Kimberling WJ, Smith RJ. SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR. Hum Mutat. 2008 Apr;29(4):565. doi: 10.1002/humu.20714.
- Krug P, Moriniere V, Marlin S, Koubi V, Gabriel HD, Colin E, Bonneau D, Salomon R, Antignac C, Heidet L. Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations. Hum Mutat. 2011 Feb;32(2):183-90. doi: 10.1002/humu.21402.
- Mosrati MA, Hammami B, Rebeh IB, Ayadi L, Dhouib L, Ben Mahfoudh K, Hakim B, Charfeddine I, Mnif J, Ghorbel A, Masmoudi S. A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans. Eur J Med Genet. 2011 Sep-Oct;54(5):e484-8. doi: 10.1016/j.ejmg.2011.06.001. Epub 2011 Jun 15.
- Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, Kumar S, Neuhaus TJ, Kemper MJ, Raymond RM Jr, Brophy PD, Berkman J, Gattas M, Hyland V, Ruf EM, Schwartz C, Chang EH, Smith RJ, Stratakis CA, Weil D, Petit C, Hildebrandt F. SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci U S A. 2004 May 25;101(21):8090-5. doi: 10.1073/pnas.0308475101. Epub 2004 May 12.
- Smith RJH, Azaiez H. Branchiootorenal Spectrum Disorder. 1999 Mar 19 [updated 2025 Jun 26]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1380/
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