The gene tubb3 encodes a beta-tubulin protein that functions in microtubule polymerization and cytoskeletal organization, essential for cellular structure and intracellular transport. In Xenopus laevis...[+]

The gene tubb3 encodes a beta-tubulin protein that functions in microtubule polymerization and cytoskeletal organization, essential for cellular structure and intracellular transport. In Xenopus laevis and Xenopus tropicalis, it is involved in neural development, with expression observed in the nervous system, including the brain and spinal cord, and plays a role in neuronal differentiation and axon guidance. The protein localizes to the cytoplasm and is integral to microtubule dynamics during cell division and neuronal migration. [-]

             complex cortical dysplasia with other brain malformations 1
             congenital fibrosis of the extraocular muscles 3A

          FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INV

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD