BBS1 gene
The BBS1 gene provides instructions for creating a protein essential for the formation and function of cilia, which are critical for sensory perception and chemical signaling.
Normal Function
The BBS1 gene provides instructions for making a protein found in cells throughout the body. The BBS1 protein is part of a complex of proteins that plays a critical role in the formation of cell structures called cilia. Cilia are microscopic, finger-like projections that extend from the surface of many types of cells. They are involved in cell movement and various chemical signaling pathways. Additionally, cilia are necessary for the perception of sensory input, such as sight, hearing, and smell.
Health Conditions Related to Genetic Changes
Bardet-Biedl syndrome
More than 30 mutations in the BBS1 gene have been identified in people with Bardet-Biedl syndrome. Mutations in this gene are the most common cause of the disorder, accounting for approximately one-quarter of all cases.
Most BBS1 gene mutations alter single protein building blocks (amino acids) or lead to the production of an abnormally short version of the protein. The most common mutation replaces the amino acid methionine with arginine at protein position 390 (Met390Arg or M390R).
Mutations in the BBS1 gene likely affect the normal formation and function of cilia. Defects in these structures disrupt important chemical signaling pathways during development, leading to abnormalities in sensory perception. Researchers believe that defective cilia are responsible for most features of Bardet-Biedl syndrome, including:
- Vision loss
- Obesity
- Polydactyly (extra fingers and/or toes)
- Kidney abnormalities
- Intellectual disability
Genomic Location
The BBS1 gene is found on chromosome 11.