DNAH1

DNAH1 is a gene that encodes a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been associated with primary ciliary dyskinesia.

Structure

The DNAH1 gene is located on the q arm of chromosome 3 in position 21.1 and spans 79.5 kilobases. The gene produces a 4.6 kDa protein composed of 4286 amino acids. The structure of the protein includes an N-terminal stem domain, which is followed by a linker region, a coiled-coil domain, and six AAA+ ATPase domains. The C-terminal region contains a microtubule-binding stalk and a microtubule-binding domain.

Function

The DNAH1 protein is a component of the outer dynein arm in the cilia and flagella, which are hair-like structures that protrude from the surface of cells and are involved in cellular movement and signal transduction. The protein functions as a force-generating machine that uses ATP hydrolysis to move along microtubules in cells. It plays a crucial role in the movement of cilia and flagella and is essential for normal ciliary function.

Clinical Significance

Mutations in the DNAH1 gene have been associated with primary ciliary dyskinesia, a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children. The mutations cause the cilia to be immotile or to beat abnormally, impairing their function.

Research

Research is ongoing to understand the role of DNAH1 in ciliary function and its implications in disease. Studies have shown that mutations in this gene can lead to a variety of ciliary dysfunctions, suggesting that it may be a potential therapeutic target for diseases associated with ciliary dysfunction.

File:DNAH1 gene location on human chromosome 3.png

Location of the DNAH1 gene on chromosome 3

See Also

• Dynein
• Primary ciliary dyskinesia
• Microtubule
• ATPase

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