RSPH4A

RSPH4A (Radial Spoke Head 4 Homolog A) is a protein that in humans is encoded by the RSPH4A gene. This protein is a component of the axoneme, a structure found in the cilia and flagella of cells. Mutations in the RSPH4A gene have been associated with Primary ciliary dyskinesia, a rare genetic disorder that affects the cilia of the cells.

Function

The RSPH4A protein is a component of the radial spoke head, a structure found in the axoneme of cilia and flagella. The radial spoke is a multi-protein complex that plays a crucial role in the regulation of ciliary and flagellar motility. The RSPH4A protein is thought to be involved in the stabilization of the radial spoke head.

Clinical significance

Mutations in the RSPH4A gene have been associated with Primary ciliary dyskinesia (PCD). PCD is a rare genetic disorder that affects the cilia of the cells, leading to chronic respiratory tract infections, abnormal organ positioning, and infertility. The RSPH4A gene mutations associated with PCD are thought to affect the structure and function of the cilia, leading to the symptoms of the disorder.

See also

• Primary ciliary dyskinesia
• Cilia
• Flagella
• Axoneme
• Radial spoke

References

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