TUBA4A

Chr 2ADAR

tubulin alpha 4a

Also known as: ALS22, CMYO26, FTDALS9, H2-ALPHA, OZEMA23, SPAX11, TUBA1

NCBI Gene: 7277 ENSG00000127824 UniProt: P68366 OMIM: 191110

This gene encodes an alpha tubulin protein that forms heterodimers with beta tubulin to constitute microtubules, the major structural components of the cellular cytoskeleton. Mutations cause autosomal dominant spastic ataxia, frontotemporal dementia with or without amyotrophic lateral sclerosis, and autosomal recessive congenital myopathy, affecting the nervous system and skeletal muscle. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.62), and inheritance patterns vary by phenotype with both dominant and recessive forms described.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes and they are highly conserved among and between species. This gene encodes an alpha tubulin that is a highly conserved homolog of a rat testis-specific alpha tubulin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]

GeneReviews OMIM ResearchGenerating clinical summary…