TUBA8
TUBA8
TUBA8 is a gene that encodes a protein known as tubulin alpha-8 chain. This gene is located on chromosome 12 in humans. The tubulin alpha-8 chain is a component of microtubules, which are essential structures involved in various cellular processes such as cell division, intracellular transport, and cell shape maintenance.
Function[edit | edit source]
The protein encoded by TUBA8 is a member of the alpha tubulin family and plays a crucial role in the assembly and stabilization of microtubules. Microtubules are dynamic structures that are involved in intracellular transport, cell motility, and cell division. The TUBA8 gene is expressed in various tissues and is particularly important during development and in maintaining cellular structure.
Clinical Significance[edit | edit source]
Mutations in the TUBA8 gene have been associated with various neurological disorders, including developmental brain abnormalities and intellectual disabilities. These mutations can disrupt the normal function of microtubules, leading to impaired neuronal migration and axon guidance during brain development.
Research[edit | edit source]
Research on TUBA8 and its role in cellular processes is ongoing. Scientists are investigating the specific mechanisms by which mutations in this gene lead to neurological disorders. Understanding the function of TUBA8 may provide insights into potential therapeutic strategies for treating conditions associated with microtubule dysfunction.
See also[edit | edit source]
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Contributors: Prab R. Tumpati, MD
