TUBB2B : tubulin beta 2B class IIb

Description

The TUBB2B (tubulin beta 2B class IIb) is a protein-coding gene located on chromosome 6.

The TUBB2B gene provides instructions for creating a specific type of protein called beta-tubulin (β-tubulin). This protein is part of the tubulin family, which forms and organizes cellular structures called microtubules. These microtubules are rigid, hollow fibers that make up the cell's structural framework, known as the cytoskeleton. They are composed of β-tubulin and another similar protein called alpha-tubulin (α-tubulin) produced by a different gene. Microtubules grow and shrink as tubulin proteins are added to and removed from their ends. This dynamic process enables cells to move and change shape. The β-tubulin produced by the TUBB2B gene is primarily found in the brain and nerve cells (neurons). Within neurons, microtubules are essential for the proper positioning of cells in the brain and a process called axon guidance. In this process, specialized extensions of neurons called axons reach their correct destinations. Once in the right location, these axons transmit messages to and from the brain, controlling muscle movement and detecting sensations such as touch, pain, heat, and sound.

TUBB2B gene encodes for beta-tubulin, which is a crucial component of microtubules. Microtubules are formed by the assembly of alpha- and beta-tubulin heterodimers, and their growth involves the addition of GTP-bound tubulin dimers to the microtubule end. This process is regulated by the GTPase activity of alpha-tubulin. TUBB2B plays a critical role in proper axon guidance, ensuring the correct positioning of axons in both central and peripheral nervous systems. Additionally, TUBB2B is implicated in neuronal migration, facilitating the movement of neurons to their appropriate locations.

TUBB2B is also known as CDCBM7, PMGYSA, bA506K6.1.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing