Bardet Biedl Syndrome Protein 5 (BBS5)

The BBS5 gene encodes a protein involved in the generation of cilia and flagella. Mutations in the BBS5 gene result in Bardet-Biedl syndrome (BBS), a rare autosomal recessive disease characterized by retinal dystrophy, renal structural abnormalities, obesity, dysmorphic extremities, and hypogenitalism in males.Amplification of exons 4 to 9 of BBS5 in a lymphoblastoid cell line and subsequent cloning and sequencing of the PCR products revealed 2 splice variants, one with exons 4 through 9 and the other lacking exon 8.Bbs5 protein localizes to basal bodies in mouse and C. elegans, is under the regulatory control of Daf19 gene in C. elegans, and is necessary for the generation of both cilia and flagella.