TUBAL3

Chr 10

tubulin alpha like 3

ENSG00000178462 UniProt: A6NHL2 OMIM: 620835

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.

OMIM ResearchSummary from RefSeq, UniProt

Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.39

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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