|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “Bardet-Biedl syndrome 1.”
BBS1 is the gene's official symbol. The BBS1 gene is also known by other names, listed below.
The BBS1 gene provides instructions for making a protein found in cells throughout the body. The BBS1 protein is part of a group (complex) of proteins that plays a critical role in the formation of cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of many types of cells. They are involved in cell movement and many different chemical signaling pathways. Cilia are also necessary for the perception of sensory input (such as sight, hearing, and smell).
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 Bardet-Biedl syndrome, accounting for about one-quarter of all cases.
Most BBS1 gene mutations change single protein building blocks (amino acids) in the BBS1 protein or lead to the production of an abnormally short version of the protein. The most common mutation replaces the amino acid methionine with the amino acid arginine at protein position 390 (written as Met390Arg or M390R).
Mutations in the BBS1 gene likely affect the normal formation and function of cilia. Defects in these cell structures probably disrupt important chemical signaling pathways during development and lead to abnormalities of sensory perception. Researchers believe that defective cilia are responsible for most of the features of Bardet-Biedl syndrome, including vision loss, obesity, the presence of extra fingers and/or toes (polydactyly), kidney abnormalities, and intellectual disability.
Cytogenetic Location: 11q13
Molecular Location on chromosome 11: base pairs 66,510,647 to 66,533,612
The BBS1 gene is located on the long (q) arm of chromosome 11 at position 13.
More precisely, the BBS1 gene is located from base pair 66,510,647 to base pair 66,533,612 on chromosome 11.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about BBS1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acids ; amino acid ; arginine ; cell ; disability ; gene ; kidney ; methionine ; mutation ; perception ; polydactyly ; protein ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.