BBS12

Description

The BBS12 gene encodes a protein crucial for the formation and function of cilia, tiny hair-like structures found on the surface of many cells. Cilia are involved in a wide range of cellular processes, including sensory perception, fluid movement, and cell signaling. Mutations in the BBS12 gene can disrupt these processes, leading to a variety of human disorders.

Associated Diseases

• Bardet-Biedl syndrome (BBS)
• Joubert syndrome
• Alström syndrome
• Sensenbrenner syndrome

Did you know?

BBS12 mutations can cause a wide range of clinical presentations, highlighting the complex interplay between genetics and disease.