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