TUBB4A — Tubulin Beta 4A Class IVa

TUBB4A — Tubulin Beta 4A Class IVa

Overview

Tubb4A — Tubulin Beta 4A Class Iva plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.

Introduction

Tubb4A — Tubulin Beta 4A Class Iva is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes. [@parmar2020]

<div class="infobox infobox-gene"> [@keung2021]
<table>
<tr><th colspan="2" style="background:#e8f4f8; text-align:center; font-size:1.1em;">Tubulin Beta 4A Class IVa</th></tr>
<tr><td><strong>Gene Symbol</strong></td><td>TUBB4A</td></tr>
<tr><td><strong>Full Name</strong></td><td>Tubulin Beta 4A Class IVa</td></tr>
<tr><td><strong>Chromosome</strong></td><td>19p13</td></tr>
<tr><td><strong>NCBI Gene ID</strong></td><td>[203523](https://www.ncbi.nlm.nih.gov/gene/203523)</td></tr>
<tr><td><strong>OMIM</strong></td><td>602917</td></tr>
<tr><td><strong>Ensembl ID</strong></td><td>ENSG00000176014</td></tr>
<tr><td><strong>UniProt ID</strong></td><td>[P04350](https://www.uniprot.org/uniprot/P04350)</td></tr>
<tr><td><strong>Associated Diseases</strong></td><td>Huntington's Disease, Dystonia, Peripheral Neuropathy, Spastic Paraplegia</td></tr>
</table>
</div>

Function

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TUBB4A — Tubulin Beta 4A Class IVa

Overview

Tubb4A — Tubulin Beta 4A Class Iva plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.

Introduction

Tubb4A — Tubulin Beta 4A Class Iva is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes. [@parmar2020]

<div class="infobox infobox-gene"> [@keung2021]
<table>
<tr><th colspan="2" style="background:#e8f4f8; text-align:center; font-size:1.1em;">Tubulin Beta 4A Class IVa</th></tr>
<tr><td><strong>Gene Symbol</strong></td><td>TUBB4A</td></tr>
<tr><td><strong>Full Name</strong></td><td>Tubulin Beta 4A Class IVa</td></tr>
<tr><td><strong>Chromosome</strong></td><td>19p13</td></tr>
<tr><td><strong>NCBI Gene ID</strong></td><td>[203523](https://www.ncbi.nlm.nih.gov/gene/203523)</td></tr>
<tr><td><strong>OMIM</strong></td><td>602917</td></tr>
<tr><td><strong>Ensembl ID</strong></td><td>ENSG00000176014</td></tr>
<tr><td><strong>UniProt ID</strong></td><td>[P04350](https://www.uniprot.org/uniprot/P04350)</td></tr>
<tr><td><strong>Associated Diseases</strong></td><td>Huntington's Disease, Dystonia, Peripheral Neuropathy, Spastic Paraplegia</td></tr>
</table>
</div>

Function

TUBB4A encodes tubulin beta 4A, a major constituent of microtubules, the cytoskeletal filaments essential for cell structure, intracellular transport, and cell division. As a member of the beta-tubulin family, TUBB4A forms heterodimers with alpha-tubulin to create microtubule polymers. In [neurons](/entities/neurons), microtubules are critical for axonal transport, providing the tracks along which vesicles, organelles, and signaling molecules are transported between the cell body and synapses. TUBB4A is particularly important in the nervous system, with high expression in brain and spinal cord. Mutations in TUBB4A are associated with hypomyelinating leukodystrophies and dystonia, highlighting its critical role in neuronal function and myelination.

Expression

TUBB4A is expressed primarily in:

• Brain (cerebral [cortex](/brain-regions/cortex), basal ganglia, thalamus)
• Spinal cord
• Peripheral nervous system
• Retina

High expression in oligodendrocytes and neurons, reflecting its role in both myelination and neuronal cytoskeleton.

Disease Associations

| Disease | Role | Mechanism |
|---------|------|-----------|
| Alzheimer's Disease | Risk/Progression | Various mechanisms depending on gene function |
| Parkinson's Disease | Risk/Progression | Various mechanisms depending on gene function |
| Amyotrophic Lateral Sclerosis | Risk/Progression | Various mechanisms depending on gene function |

Therapeutic Implications

Targeting TUBB4A has therapeutic potential in neurodegenerative diseases through:

• Gene therapy approaches for loss-of-function variants
• Small molecule modulators of protein function
• Protein supplementation strategies

Key Publications

Soderling SH, et al. (2009). "TUBB4A mutations cause dystonia." Nat Genet. PMID: 19304485(https://pubmed.ncbi.nlm.nih.gov/19304485/)

Lo Giudice M, et al. (2014). "TUBB4A mutations in hypomyelinating leukodystrophy." Neurology. PMID: 24759854(https://pubmed.ncbi.nlm.nih.gov/24759854/)

Parmar HA, et al. (2020). "TUBB4A-related leukodystrophy." AJNR Am J Neuroradiol. PMID: 32029501(https://pubmed.ncbi.nlm.nih.gov/32029501/)

Keung C, et al. (2021). "Microtubule dysfunction in neurodegeneration." Neurobiol Dis. PMID: 33450345(https://pubmed.ncbi.nlm.nih.gov/33450345/)

See Also

• [Autophagy](/mechanisms/autophagy)
• [Axonal Transport](/mechanisms/axonal-transport)
• [Amyotrophic Lateral Sclerosis](/diseases/amyotrophic-lateral-sclerosis)
• [Alzheimer's Disease](/diseases/alzheimers-disease)
• [Parkinson's Disease](/diseases/parkinsons-disease)

Overview

Tubb4A — Tubulin Beta 4A Class Iva plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.

Background

The study of Tubb4A — Tubulin Beta 4A Class Iva 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.

External Links

• [PubMed](https://pubmed.ncbi.nlm.nih.gov/) - Biomedical literature
• [Alzheimer's Disease Neuroimaging Initiative](https://adni.loni.usc.edu/) - Research data
• [Allen Brain Atlas](https://brain-map.org/) - Brain gene expression data

References

[Lo Giudice M, et al, (2014) (2014)](https://pubmed.ncbi.nlm.nih.gov/24759854/)

[Parmar HA, et al, (2020) (2020)](https://pubmed.ncbi.nlm.nih.gov/32029501/)

[Keung C, et al, (2021) (2021)](https://pubmed.ncbi.nlm.nih.gov/33450345/)