BBS7

Description

The BBS7 gene, located on chromosome 11, encodes a protein essential for the formation and function of cilia. Cilia are hair-like structures found on the surface of many cells, playing vital roles in sensory perception, cell signaling, and fluid movement. Mutations in the BBS7 gene disrupt cilia function, leading to a spectrum of genetic disorders known as Bardet-Biedl syndrome (BBS). BBS is a rare, autosomal recessive disorder characterized by a range of symptoms including retinal degeneration, obesity, polydactyly, and kidney abnormalities. Understanding the role of BBS7 in cilia biology is crucial for developing effective therapies for BBS and other ciliopathies.

Associated Diseases

• Bardet-Biedl Syndrome (BBS)
• Joubert Syndrome
• Alstrom Syndrome
• Sensenbrenner Syndrome
• Meckel-Gruber Syndrome

Did you know?

BBS7 mutations can cause a wide range of phenotypes, highlighting the complex and nuanced nature of cilia function.