TUBA1A

tubulin, alpha 1a

Sinónimos:

B-ALPHA-1, LIS3, TUBA3

Especie:

ID UniProtKB:

ID del gen:

Human(7846) Summary: Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulins. The genes encoding these microtubule constituents belong to 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, which are highly conserved among species. This gene encodes alpha tubulin and is highly similar to the mouse and rat Tuba1 genes. Northern blotting studies have shown that the gene expression is predominantly found in morphologically differentiated neurologic cells. This gene is one of three alpha-tubulin genes in a cluster on chromosome 12q. Mutations in this gene cause lissencephaly type 3 (LIS3) - a neurological condition characterized by microcephaly, mental retardation, and early-onset epilepsy and caused by defective neuronal migration. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012]
Mouse(22142) tubulin, alpha 1A
Rat(64158) tubulin, alpha 1A
cow(404053) tubulin, alpha 1a
domestic guinea pig(100726777) tubulin, alpha 1a
Horse(100051840) tubulin, alpha 1a
dog(608147) tubulin, alpha 1a
domestic cat(101096902) tubulin, alpha 1a

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