TUBA8

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Description

The TUBA8 (tubulin alpha 8) is a protein-coding gene located on chromosome 22.

TUBA8 gene in humans encodes for the protein tubulin alpha-8 chain.

TUBA8 encodes for alpha-tubulin, a key component of microtubules. Microtubules are hollow cylinders formed by the assembly of alpha- and beta-tubulin heterodimers. They grow through the addition of GTP-bound tubulin dimers at their ends, forming a stabilizing cap. Below the cap, GTPase activity of alpha-tubulin converts the bound GTP to GDP.

TUBA8 is also known as CDCBM8, MACTHC2, TUBAL2.

Associated Diseases

• Macrothrombocytopenia, isolated, 2, autosomal dominant
• Polymicrogyria with optic nerve hypoplasia