Tubb6 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.
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| Symbol | TUBB6 |
| Full Name | Tubulin Beta 6 Class V |
| Chromosome | 18p11.21 |
| NCBI Gene | [4790](https://www.ncbi.nlm.nih.gov/gene/4790) |
| OMIM | [613113](https://www.omim.org/entry/613113) |
| Ensembl | [ENSG00000176014](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000176014) |
| UniProt | [Q9BUF5](https://www.uniprot.org/uniprotkb/Q9BUF5/entry) |
| Associated Diseases | Peripheral neuropathy, lissencephaly |
TUBB6 (Tubulin Beta 6 Class V) is a beta-tubulin isotype involved in microtubule polymerization. It is expressed in neurons and glial cells and contributes to cytoskeletal stability. Mutations in TUBB6 cause peripheral neuropathy and malformations of cortical development. TUBB6 plays important roles in neuronal migration, axon guidance, and synaptic function.
TUBB6 is a beta-tubulin isotype involved in microtubule polymerization. It is expressed in neurons and glial cells and contributes to cytoskeletal stability. Mutations cause peripheral neuropathy and malformations of cortical development.
Expressed in brain, particularly in cortex and peripheral nervous system.
The study of Tubb6 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.
Latour et al. TUBB6 defects cause severe neuronal migration disorders (2019). 2019. ↩︎
Mao et al. Beta-tubulin isotypes in neuronal development and disease (2020). 2020. ↩︎
Cleveland et al. Tubulin and microtubule dynamics in neurons (2019). 2019. ↩︎
Baas et al. Neuronal microtubules: New perspectives on function and dysfunction (2018). 2018. ↩︎
Kaplan et al. TUBB6 and cytoskeletal stability in neural cells (2021). 2021. ↩︎
Ferreira et al. Microtubule dysfunction in neurodegenerative diseases (2017). 2017. ↩︎
Stout et al. Tubulin mutations in developmental brain disorders (2018). 2018. ↩︎