BBS5

Description

The BBS5 gene provides instructions for making a protein essential for the development and function of cilia, tiny hair-like structures found on the surface of many cells. These cilia play crucial roles in various cellular processes, including sensory perception, fluid movement, and cell signaling. Mutations in the BBS5 gene can disrupt cilia formation and function, leading to a range of genetic disorders known as ciliopathies.

Associated Diseases

• Bardet-Biedl syndrome (BBS)
• Alstrom syndrome
• Senior-Løken syndrome
• Joubert syndrome
• Meckel-Gruber syndrome

Did you know?

BBS5 mutations are particularly common in certain populations, such as the French-Canadian population.