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TUBA8

This gene encodes a member of the alpha tubulin protein family. Alpha tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene are associated with polymicrogyria and optic nerve hypoplasia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
Protein class

Disease related genes, Human disease related genes

Predicted location

Intracellular, Membrane (different isoforms)

Single cell type specificity

Cell type enhanced (Late spermatids, Early spermatids, Excitatory neurons, Sertoli cells, Inhibitory neurons)

Immune cell specificity

Group enriched (NK-cell, neutrophil, basophil, eosinophil)

Cell line specificity

Group enriched (NB-4, SCLC-21H, TIME)

Interaction

Dimer of alpha and beta chains. A typical microtubule is a hollow water-filled tube with an outer diameter of 25 nm and an inner diameter of 15 nM. Alpha-beta heterodimers associate head-to-tail to form protofilaments running lengthwise along the microtubule wall with the beta-tubulin subunit facing the microtubule plus end conferring a structural polarity. Microtubules usually have 13 protofilaments but different protofilament numbers can be found in some organisms and specialized cells.

More Types Infomation

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