TUBAL3

Chr 10

tubulin alpha like 3

NCBI Gene: 79861 ENSG00000178462 UniProt: A6NHL2

This protein is a beta-tubulin that forms heterodimers with alpha-tubulin to create microtubules, which are essential cytoskeletal structures that grow through GTP-dependent polymerization. Mutations cause cortical dysplasia-focal epilepsy syndrome, which presents with developmental cortical malformations and seizures, following an autosomal recessive inheritance pattern. The gene shows extreme constraint against loss-of-function variants (pLI near 1), indicating that complete loss of protein function is likely incompatible with normal development.

ResearchSummary from RefSeq, UniProt

Predicted to enable GTP binding activity. Predicted to be a structural constituent of cytoskeleton. Predicted to be involved in microtubule cytoskeleton organization and mitotic cell cycle. Predicted to be located in cytoskeleton. Predicted to be active in cytoplasm and microtubule. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.39

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429