Tubulin alpha-1A chain is a type of alpha-tubulin involved in the formation of microtubules, which are structural proteins that play a role in the cytoskeletal structure. Microtubules are composed of heterodimers of alpha- and beta-tubulin molecules.

Approximately 40 mutations in the TUBA1A gene have been found to cause isolated lissencephaly sequence (ILS). This condition is characterized by abnormal brain development that results in the brain having a smooth appearance (lissencephaly) instead …

Mar 30, 2025 · TUBA1A (Tubulin Alpha 1a) is a Protein Coding gene. Diseases associated with TUBA1A include Lissencephaly 3 and Congenital Fibrosis Of The Extraocular Muscles. Among its related pathways are Loss of Nlp from mitotic centrosomes and Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding.

TUBA1A - associated tubulinopathy is caused by specific changes (known as pathogenic variants) to a gene called TUBA1A (TUBA1A is an abbreviation of the gene’s full name, tubulin alpha-1A, hence the name tubulinopathy). The TUBA1A gene is located on the long ‘q’ arm of chromosome 12 in a region called 12q13.12 (see below).

TUBA1A was initially screened in humans with lissencephaly after a murine model carrying an ENU-induced mutation in the orthologous gene, Tuba1, produced a phenotype characteristic of mouse lissencephaly.

Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem.

The most common tubulin gene mutated is the α-tubulin gene TUBA1A, which is the most prevalent α-tubulin gene expressed in post-mitotic neurons. The normal role of TUBA1A during neuronal maturation, and how mutations alter its function to produce the phenotypes observed in patients, remains unclear.

Feb 20, 2025 · Elevated TUBA1A Might Indicate the Clinical Outcomes of Patients with Gastric Cancer, Being Associated with the Infiltration of Macrophages in the Tumor Immune Microenvironment.

Jan 11, 2022 · We here extend the clinical, neuroradiological, and genetic spectrum of TUBA1A tubulinopathy and provide insights into residue-specific pathomechanisms and genotype-phenotype correlations.

Tuba1a is Required for Formation of Midline Commissures. TUBA1A is a major component of developing neuronal microtubules and is critical for proper brain development (Aiken et al., 2017).