Tubb2A — Tubulin Beta 2A Class Iia is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
| TUBB2A — Tubulin Beta 2A Class IIa | |
|---|---|
| Symbol | TUBB2A |
| Full Name | Tubulin Beta 2A Class IIa |
| Chromosome | 12p12.3 |
| NCBI Gene | 7280 |
| Ensembl | ENSG00000137267 |
| OMIM | 615101 |
| UniProt | Q9H4B7 |
| Diseases | Alzheimer's Disease, Cortical Malformations, Kallmann Syndrome |
| Expression | Brain, Testis |
TUBB2A is a gene located on chromosome 12p12.3 that encodes beta-2-tubulin, a neuron-specific tubulin isotype. TUBB2A is expressed primarily in the brain and is particularly important in neuronal development and function.
TUBB2A:
Mutations in TUBB2A cause:
Alzheimer's Disease: TUBB2A expression changes have been reported in AD brain.
Cortical Malformations: TUBB2A mutations cause lissencephaly and pachygyria.
Kallmann Syndrome: TUBB2A mutations have been associated with some cases.
The study of Tubb2A — Tubulin Beta 2A Class Iia 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.