TUBA4A Gene (Tubulin Alpha 4a)
A key component of microtubules implicated in neurodegenerative disorders
Gene Information Card
| Symbol | TUBA4A |
|---|---|
| Full Name | Tubulin Alpha 4a |
| Gene Type | Protein coding |
| Chromosomal Location | 2q35 |
| NCBI Gene ID | 7277 ncbi.nlm.nih.gov/gene/7277 |
| Ensembl ID | ENSG00000127824 |
| UniProt ID | P68366 |
| OMIM ID | 191110 |
| HGNC ID | 12407 |
| Aliases | TUBA1, alpha-tubulin 4a |
Description
TUBA4A encodes a member of the alpha-tubulin family, which is a major component of microtubules. Microtubules are essential for cytoskeletal structure, cell division, intracellular transport, and neuronal function. Mutations in TUBA4A are associated with amyotrophic lateral sclerosis (ALS) and other neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Amyotrophic lateral sclerosis (ALS) | Mutations disrupt microtubule dynamics and axonal transport, leading to motor neuron degeneration | ClinVar, OMIM |
| Frontotemporal dementia (FTD) | Impaired microtubule stability and neuronal function | ClinVar, OMIM |
| Hereditary spastic paraplegia | Defects in microtubule-mediated axonal transport | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 32.5 | High |
| Testis | 15.2 | Medium |
| Heart | 10.8 | Medium |
| Liver | 5.1 | Low |
| Kidney | 8.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 45.0 | High expression |
| HeLa (cervical carcinoma) | 22.0 | Moderate expression |
| HEK293 (embryonic kidney) | 18.5 | Moderate expression |
| A549 (lung carcinoma) | 12.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Asp249Asn (D249N) | Missense | Rare | Disrupts microtubule polymerization and stability |
| p.Arg320Cys (R320C) | Missense | Rare | Impairs microtubule assembly and axonal transport |
| p.Gly412Arg (G412R) | Missense | Rare | Alters tubulin folding and heterodimer formation |
Mutation functional classification
Loss of Function (LOF)
Mutations reduce microtubule stability and polymerization, leading to impaired cellular function.
Gain of Function (GOF)
Not well characterized; some mutations may cause toxic aggregation.
Dominant Negative (DN)
Mutant tubulin incorporates into microtubules and disrupts normal dynamics, acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • microtubule cytoskeleton organization | • GTP binding |
| • structural constituent of cytoskeleton | • protein polymerization |
| • cell division |
Pathways
• Microtubule-dependent transport
• Cell cycle (mitosis)
• Axonal transport in neurons
Protein Summary
TUBA4A encodes alpha-tubulin 4a, a protein that forms heterodimers with beta-tubulin to build microtubules. These microtubules are critical for maintaining cell shape, enabling intracellular transport, and facilitating cell division. In neurons, proper microtubule function is essential for axonal transport and synaptic signaling. Mutations in TUBA4A compromise microtubule integrity and are linked to neurodegenerative diseases such as ALS.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| Tuba4a Knockout HT22 Cell Line | EDC90027 | Mouse | 22145 | Details Get a Quote |
| TUBA4A Knockout HCT 116 Cell Line | EDJ-KQ71664 | Human | 7277 | Details Get a Quote |
| TUBA4A Knockout A-549 Cell Line | EDJ-KQ63193 | Human | 7277 | Details Get a Quote |
| TUBA4A Knockout HeLa Cell Line | EDJ-KQ54705 | Human | 7277 | Details Get a Quote |
| TUBA4A Knockout HEK293 Cell Line | EDJ-KQ50696 | Human | 7277 | Details Get a Quote |
