BBS4
Description
The BBS4 gene plays a crucial role in the formation and function of cilia, tiny hair-like structures found on the surface of many cells. These cilia act like cellular antennas, receiving signals and mediating diverse cellular processes. Mutations in BBS4 disrupt ciliary function, leading to a range of human diseases, collectively known as Bardet-Biedl syndrome (BBS). BBS is a rare, genetically heterogeneous disorder characterized by a constellation of symptoms including retinal degeneration, obesity, polydactyly, kidney abnormalities, and cognitive impairment.
Associated Diseases
Did you know?
BBS4 is one of 14 genes known to be involved in BBS. Mutations in any of these genes can lead to the syndrome, highlighting the complex interplay of genes in ciliary function.
