Dec 25, 2024 · TUBA1A (Tubulin Alpha 1a) is a Protein Coding gene. Diseases associated with TUBA1A include Lissencephaly 3 and Lissencephaly Due To Tuba1a Mutation. Among its …

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 …

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

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 …

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 …

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 …

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 …

Apr 14, 2016 · Clinical resource with information about TUBA1A, Lissencephaly due to TUBA1A mutation, and available tests. There are links to practice guidelines and authoritative resources …

TUBA1A is an alpha-tubulin gene. It is extremely important to proper brain development, encoding for one of the most abundant proteins in the embryonic brain. TUBA1A was the first …

In this study, we causally link the previously unreported missense mutation p.I384N in TUBA1A, one of the neuron-specific α-tubulin isotype I, to a neurodegenerative disorder characterized …