RSPH6A

RSPH6A is a gene that in humans encodes a protein known as radial spoke head 6 homolog A. This protein is a component of the radial spoke head, a structure found in the axonemes of cilia and flagella. Mutations in this gene have been associated with primary ciliary dyskinesia, a disorder characterized by chronic respiratory tract infections, abnormal sperm motility, and situs inversus.

Structure

The RSPH6A gene is located on the short (p) arm of chromosome 21 at position 21.2. It spans a length of approximately 15.3 kilobases and consists of 10 exons. The encoded protein is 436 amino acids in length with a predicted molecular weight of 49.5 kilodaltons.

Function

The RSPH6A protein is a component of the radial spoke head, a structure found in the axonemes of cilia and flagella. Radial spokes are T-shaped structures that extend from the central pair of microtubules to the nine outer doublet microtubules. They are involved in the regulation of ciliary and flagellar motility by transmitting signals from the central pair to the outer doublets.

Clinical significance

Mutations in the RSPH6A gene have been associated with primary ciliary dyskinesia (PCD), a disorder characterized by chronic respiratory tract infections, abnormal sperm motility, and situs inversus. PCD is a rare, genetically heterogeneous disorder caused by defects in cilia and flagella. The RSPH6A gene is one of several genes in which mutations have been found to cause PCD.

See also

• Primary ciliary dyskinesia
• Cilia
• Flagella
• Radial spoke