BBS2

Description

The BBS2 gene provides instructions for making a protein called Bardet-Biedl syndrome protein 2. This protein is crucial for the assembly and function of cilia, hair-like structures found on the surface of many cells. Cilia play essential roles in sensory perception, cell signaling, and fluid movement. Mutations in the BBS2 gene disrupt cilia formation, leading to a range of developmental disorders known as ciliopathies, including Bardet-Biedl syndrome.

Associated Diseases

• Bardet-Biedl syndrome
• Joubert syndrome
• Alström syndrome
• Senior-Løken syndrome
• Meckel-Gruber syndrome

Did you know?

Mutations in the BBS2 gene can cause a wide range of clinical features, even within the same family. This variability highlights the complex interplay between genetics and environmental factors in human health.