RSPH14

RSPH14 (Radial Spoke Head 14 Homolog) is a protein that in humans is encoded by the RSPH14 gene. This protein is a component of the axoneme, a structure found in cilia and flagella.

Function

The RSPH14 protein is a part of the radial spoke head, a structure found in the axoneme of cilia and flagella. The axoneme is a complex structure that is responsible for the movement of these cellular appendages. Mutations in the RSPH14 gene can lead to defects in cilia and flagella function, which can result in a variety of ciliopathies.

Clinical significance

Mutations in the RSPH14 gene have been associated with primary ciliary dyskinesia (PCD), a rare genetic disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and infertility. PCD is caused by defects in the movement of cilia and flagella.

Research

Research into the RSPH14 gene and its associated protein may provide insights into the mechanisms of cilia and flagella movement, and may lead to new treatments for ciliopathies.

See also

• Cilia
• Flagella
• Primary ciliary dyskinesia
• Ciliopathies

References

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