TUBB4A Gene
Tubulin Beta 4A Class IVa
Gene Information Card
| Symbol | TUBB4A |
|---|---|
| Full Name | Tubulin Beta 4A Class IVa |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 10382 ncbi.nlm.nih.gov/gene/10382 |
| Ensembl ID | ENSG00000104833 |
| UniProt ID | P04350 |
| OMIM ID | 602662 |
| HGNC ID | 20774 |
| Aliases | TUBB4, TUBB5, beta-4 tubulin |
Description
TUBB4A encodes a member of the beta-tubulin family, which forms microtubules essential for cytoskeletal structure, cell division, and intracellular transport. Mutations in TUBB4A are associated with DYT4 dystonia and hypomyelinating leukodystrophy (H-ABC).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dystonia 4 (DYT4) | Missense mutations alter microtubule dynamics leading to neuronal dysfunction | ClinVar, OMIM |
| Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) | Dominant-negative mutations disrupt myelin formation and axonal integrity | ClinVar, OMIM |
| Leukodystrophy, hypomyelinating, 6 | Loss of microtubule stability impairs oligodendrocyte function | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 28.5 | High |
| Testis | 12.3 | Medium |
| Heart | 6.8 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| U-87 MG (glioblastoma) | 8.9 | Glial expression |
| HEK 293 | 3.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.4C>T (p.Arg2Trp) | Missense | Rare | Alters GTP binding; associated with DYT4 |
| c.745G>A (p.Asp249Asn) | Missense | Rare | Dominant-negative; H-ABC phenotype |
| c.1228G>A (p.Glu410Lys) | Missense | Rare | Impaired microtubule polymerization |
Mutation functional classification
Loss of Function (LOF)
Not typically observed; most mutations are dominant-negative or gain-of-function.
Gain of Function (GOF)
Some missense variants (e.g., p.Arg2Trp) alter microtubule dynamics leading to hyperstabilization.
Dominant Negative (DN)
p.Asp249Asn and other H-ABC mutations disrupt microtubule assembly and oligodendrocyte function.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of cytoskeleton (GO:0005200) | • microtubule-based process (GO:0007017) |
| • microtubule (GO:0005874) | • GTPase activity (GO:0003924) |
| • GTP binding (GO:0005525) |
Pathways
• Microtubule cytoskeleton organization (Reactome: R-HSA-190840)
• Formation of tubulin folding intermediates (Reactome: R-HSA-389958)
Protein Summary
TUBB4A is a 444-amino acid beta-tubulin protein that heterodimerizes with alpha-tubulin to form microtubules. It is highly expressed in the brain and plays a critical role in neuronal migration, axon guidance, and myelin maintenance. Mutations cause neurological disorders by disrupting microtubule stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TUBB4A Knockout HEK293 Cell Line | EDJ-KQ7027 | Human | 10382 | Details Get a Quote |
| TUBB4A Knockout A-549 Cell Line | EDJ-KQ31774 | Human | 10382 | Details Get a Quote |
| TUBB4A Knockout HCT 116 Cell Line | EDJ-KQ31775 | Human | 10382 | Details Get a Quote |
| TUBB4A Knockout HeLa Cell Line | EDJ-KQ31776 | Human | 10382 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
