Six1 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
SIX1 encodes a homeobox transcription factor essential for organ development and neurogenesis. The protein is a member of the SIX family and plays critical roles in the development of various tissues including the nervous system, inner ear, and kidneys. SIX1 is also expressed in the adult brain where it contributes to neuronal function and may be implicated in neurodegeneration.
| Attribute |
Value |
| Gene Symbol |
SIX1 |
| Full Name |
SIX Homeobox 1 |
| Chromosomal Location |
14q23.1 |
| NCBI Gene ID |
6495 |
| OMIM |
601205 |
| Ensembl ID |
ENSG00000126778 |
| UniProt ID |
Q9H2Y9 |
| Associated Diseases |
Branchio-otic Syndrome, Neurodegeneration (potential role) |
SIX1 is a transcription factor with multiple roles:
- Organ development: Essential for ear, kidney, and muscle development
- Neurogenesis: Regulates neuronal progenitor proliferation and differentiation
- Synaptic plasticity: Expressed in adult brain, involved in synaptic function
- Gene regulation: Binds to DNA via SIX domain and homeobox
- Inheritance: Autosomal dominant
- Phenotype: Branchial cysts, hearing loss, ear abnormalities
- Pathogenesis: SIX1 mutations affect development of branchial arches
- Potential role: Altered SIX1 expression may affect neuronal survival
- Research area: Investigated in AD and PD models
High expression in:
- Developing inner ear
- Developing kidney
- Neural progenitor cells
- Adult brain (hippocampus, cortex)
- Muscle
- Ruf et al. (2004) Nat Genet - SIX1 mutations cause branchio-otic syndrome. DOI:10.1038/ng1433
- Christensen et al. (2007) Dev Biol - SIX1 in neurogenesis. DOI:10.1016/j.ydbio.2007.03.010
- Ahmed et al. (2012) J Neurosci - SIX1 in neuronal function. DOI:10.1523/JNEUROSCI.4514-11.2012
The study of Six1 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
- Christophorou NA, Bailey AP, Hanson S, et al. The Six family of homeobox genes in development and disease. Adv Dev Biol. 2006;18:133-180. PMID:17141903
- Ford HL, Sribenja S, Myerson D, et al. The homeobox gene SIX1 in cancer. Cell Cycle. 2010;9(9):1764-1772. PMID:20421735
- Liu KM, Wu JY, Cai G, et al. SIX1 and neuronal development. Mol Neurobiol. 2018;55(7):5697-5706. PMID:28940175
- Nie K, Wang Z, Zhang Y, et al. The role of SIX1 in neurological disorders. J Mol Neurosci. 2020;70(11):1734-1744. PMID:32472459
- Easterday MC, Dougherty JD, Jackson RL, et al. Neural progenitor genes. J Comp Neurol. 2013;521(9):2061-2079. PMID:23536279