TUBA1A

TUBA1A, Tubulin alpha-1A chain, also known as TUBA3, LIS3，which is encoded by the human TUBA1A gene, which is located in the q13.3 region of chromosome 12.
TUBA1A is an important cytoskeletal protein, belonging to the family of tubulin proteins, which mainly serves as an integral part of microtubules, and binds to β-microtubulin (TUBB) to form microtubule dimerization. Its mechanism of action involves playing a key role in processes such as cell division, material transport, and maintenance of cell morphology. TUBA1A regulates the assembly and stability of microtubules by interacting with microtubule-associated proteins.
Mutations in TUBA1A have been associated with a variety of neurodevelopmental disorders, particularly with Lissencephalytype3, a disorder caused by neuronal migration defects that manifest as microcephaly, mental retardation, and early seizures. TUBA1A also shows aberrant expression in a variety of cancers, where it may play an important role in tumor cell proliferation and metastasis, making it a potential target for cancer therapy.