TUBGCP6

Description

TUBGCP6, also known as Tubulin Gamma Complex Protein 6, is a crucial protein involved in microtubule dynamics. Microtubules are essential cytoskeletal components that play vital roles in cell division, intracellular transport, and cell shape maintenance. TUBGCP6 is a component of the gamma-tubulin ring complex (γ-TuRC), which acts as a nucleation site for microtubule assembly. The γ-TuRC serves as a template for microtubule polymerization, ensuring accurate microtubule formation and organization within cells. TUBGCP6‘s role in microtubule dynamics is critical for various cellular processes, including cell migration, organelle movement, and the maintenance of cellular polarity. Dysfunction in TUBGCP6 can lead to disruptions in microtubule assembly and organization, impacting cellular function and potentially contributing to disease development.

Associated Diseases

• Cancer
• Microcephaly and chorioretinopathy, autosomal recessive, 1
• Neurodevelopmental Disorders
• Congenital Malformations
• Infertility

Did you know?

Mutations in the TUBGCP6 gene have been linked to a rare genetic disorder known as ‘TUBGCP6-Related Microcephaly Syndrome‘, characterized by severe intellectual disability and a small head circumference.