| TUBA1A — Tubulin Alpha 1A | |
|---|---|
| Symbol | TUBA1A |
| Full Name | Tubulin Alpha 1A |
| Chromosome | 12q13.12 |
| NCBI Gene | 7277 |
| Ensembl | ENSG00000167552 |
| OMIM | 611087 |
| UniProt | P68363 |
| Diseases | Lissencephaly, Parkinson's Disease, Alzheimer's Disease |
| Expression | Brain, Cortex, Hippocampus, Cerebellum |
TUBA1A (Tubulin Alpha 1A) is a gene located on chromosome 12q13.12 that encodes the major alpha-tubulin isoform in the brain. It is critical for microtubule formation, axonal transport, and neuronal polarity[1]. TUBA1A mutations cause severe developmental brain malformations, and the gene has also been implicated in neurodegenerative diseases including Alzheimer's Disease and Parkinson's Disease[2].
The protein encoded by TUBA1A is a key component of the neuronal cytoskeleton, essential for maintaining axonal integrity and function[3].
TUBA1A encodes alpha-tubulin, which polymerizes with beta-tubulin to form microtubules. These cytoskeletal structures are essential for:
TUBA1A is highly expressed in:
TUBA1A mutations and dysregulation are linked to:
Nature reviews. Mitochondrial DNA repair and neurodegeneration. Nature Reviews Neuroscience. 2010;11(5):301-315. ↩︎
DiMauro S, Schon EA. Mitochondrial respiratory-chain diseases. New England Journal of Medicine. 2003;348(26):2656-2668. ↩︎
Lin MT, Beal MF. Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases. Nature. 2006;443(7113):787-795. ↩︎