SIX homeobox 5
Última actualización 18 Aug 2020
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El SIX5 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
El SIX5 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 SIX5 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; and the kidneys. Researchers have also found the SIX5 protein in the adult brain, heart, eyes, and muscles used for movement (skeletal muscles).
Conditions referring to this gene or chromosome
Otros nombres
BOR2
DM locus-associated homeodomain protein
DMAHP
dystrophia myotonica-associated homeodomain protein
homeobox protein SIX5
sine oculis homeobox homolog 5
SIX5_HUMAN
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Lecturas adicionales y referencias
- SIX homeobox 5; MedlinePlus, National Library of Medicine.
- Hoskins BE, Cramer CH, Silvius D, Zou D, Raymond RM, Orten DJ, Kimberling WJ, Smith RJ, Weil D, Petit C, Otto EA, Xu PX, Hildebrandt F. Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. Am J Hum Genet. 2007 Apr;80(4):800-4. doi: 10.1086/513322. Epub 2007 Feb 22.
- Kirby RJ, Hamilton GM, Finnegan DJ, Johnson KJ, Jarman AP. Drosophila homolog of the myotonic dystrophy-associated gene, SIX5, is required for muscle and gonad development. Curr Biol. 2001 Jul 10;11(13):1044-9. doi: 10.1016/s0960-9822(01)00319-0.
- 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.
- Pham YC, Man Nt, Holt I, Sewry CA, Pall G, Johnson K, Morris GE. Characterisation of the transcription factor, SIX5, using a new panel of monoclonal antibodies. J Cell Biochem. 2005 Aug 1;95(5):990-1001. doi: 10.1002/jcb.20454.
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