TUBA1A

TUBA1A is a gene that encodes the protein Tubulin Alpha 1a. This protein is a vital component of microtubules, which are structural elements that help cells maintain their shape, enable transport within cells, and are crucial for cell division. Mutations in the TUBA1A gene can lead to a variety of neurological disorders.

Function[edit | edit source]

The TUBA1A gene provides instructions for making a protein called tubulin alpha 1a. This protein is a member of the tubulin family, which are the building blocks of microtubules. Microtubules are part of the cell's cytoskeleton, providing structure and shape to cells. They also play a role in many cellular processes, including cell division and intracellular transport.

Clinical significance[edit | edit source]

Mutations in the TUBA1A gene have been associated with a range of neurological disorders, including lissencephaly, polymicrogyria, and microlissencephaly. These conditions are characterized by abnormal brain development, leading to intellectual disability, seizures, and other neurological problems.

Genetics[edit | edit source]

The TUBA1A gene is located on the long (q) arm of chromosome 12 at position 13.12. Like other genes, it is made up of DNA and is inherited from our parents. Mutations in this gene can be inherited in an autosomal dominant manner, which means one copy of the altered gene in each cell is sufficient to cause the disorder.