BBS1 : Bardet-Biedl syndrome 1

Description

The BBS1 gene encodes a protein crucial for the assembly and function of cilia, tiny hair-like structures found on the surface of many cells. These cilia play vital roles in sensory perception, fluid flow, and cell signaling. Mutations in the BBS1 gene can disrupt ciliary function, leading to a range of developmental and health problems known as ciliopathies. BBS1 is particularly involved in the formation of the Bardet-Biedl syndrome (BBS), a rare genetic disorder affecting multiple organ systems.

Associated Diseases

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

Did you know?

BBS1 mutations can cause a wide spectrum of phenotypes, ranging from mild to severe, highlighting the complex interplay between genes and environmental factors in human health.