TUBA8: Alpha-Tubulin 8 and Its Role in Cortical Malformations
A comprehensive biomedical SEO resource for TUBA8, covering gene function, associated diseases, expression, and mutations.
Gene Information Card
| Symbol | TUBA8 |
|---|---|
| Full Name | tubulin alpha 8 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q11.1 |
| NCBI Gene ID | 51807 ncbi.nlm.nih.gov/gene/51807 |
| Ensembl ID | ENSG00000100220 |
| UniProt ID | Q9NY65 |
| OMIM ID | 605742 |
| HGNC ID | 12410 |
| Aliases | TUBAL2, MGC119194, MGC119195 |
Description
TUBA8 encodes alpha-tubulin 8, a member of the alpha-tubulin family. Tubulins are the major components of microtubules, which are cytoskeletal structures essential for cell division, intracellular transport, and neuronal migration. Mutations in TUBA8 are associated with cortical malformations, including polymicrogyria and lissencephaly.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | Disrupted microtubule function impairs neuronal migration and cortical development. | OMIM #613153; ClinVar |
| Lissencephaly | Defective tubulin polymerization affects neuronal migration, leading to a smooth brain surface. | OMIM #607432; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Testis | 3.8 | Low |
| Heart | 1.5 | Not detected |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 4.1 | Neuronal model |
| HeLa (cervical carcinoma) | 2.3 | Epithelial |
| HEK293 (embryonic kidney) | 1.9 | Common cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.5C>T (p.Ala2Val) | Missense | Rare | Alters N-terminal domain, likely disrupts tubulin folding |
| c.518G>A (p.Arg173His) | Missense | Rare | Impairs microtubule stability |
Mutation functional classification
Loss of Function (LOF)
Missense mutations reduce tubulin incorporation into microtubules, leading to loss of normal microtubule function.
Gain of Function (GOF)
No evidence for gain-of-function mutations in TUBA8.
Dominant Negative (DN)
Mutant alpha-tubulin 8 can interfere with wild-type tubulin polymerization, acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • microtubule cytoskeleton organization (GO:0000226) | • microtubule-based process (GO:0007017) |
| • GTP binding (GO:0005525) | • structural constituent of cytoskeleton (GO:0005200) |
Pathways
• Microtubule polymerization (Reactome: R-HSA-190840)
• Formation of tubulin folding intermediates (Reactome: R-HSA-389960)
Protein Summary
Alpha-tubulin 8 is a 451-amino-acid protein that forms heterodimers with beta-tubulin to build microtubules. It is highly expressed in the brain and testis. Mutations in TUBA8 disrupt microtubule dynamics, leading to neuronal migration disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TUBA8 Knockout HEK293 Cell Line | EDJ-KQ1975 | Human | 51807 | Details Get a Quote |
| TUBA8 Knockout HCT 116 Cell Line | EDJ-KQ21944 | Human | 51807 | Details Get a Quote |
| TUBA8 Knockout HeLa Cell Line | EDJ-KQ56363 | Human | 51807 | Details Get a Quote |
| TUBA8 Knockout A-549 Cell Line | EDJ-KQ64853 | Human | 51807 | Details Get a Quote |
