ACTR3B
ACTR3B is a gene that encodes the protein Arp11, a component of the dynactin complex. This complex is involved in a variety of cellular processes, including mitosis, cytokinesis, and intracellular transport. Mutations in the ACTR3B gene have been associated with a range of medical conditions, including microcephaly and choreoathetosis.
Function[edit | edit source]
The ACTR3B gene provides instructions for making a protein called Arp11. This protein is a part of the dynactin complex, which is involved in the movement of vesicles and organelles within cells. The dynactin complex also plays a role in cell division, particularly during the process of mitosis and cytokinesis.
Clinical significance[edit | edit source]
Mutations in the ACTR3B gene can lead to a variety of medical conditions. For example, a specific mutation in this gene has been associated with a rare condition called microcephaly-choreoathetosis-kyphosis syndrome. This condition is characterized by a small head size, involuntary movements, and an exaggerated curvature of the spine.
See also[edit | edit source]
References[edit | edit source]
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