BBS5 encodes a protein that has been directly linked to Bardet-Biedl syndrome. Bardet-Biedl syndrome (BBS) is an autosomal recessive condition characterised by rod-cone dystrophy,postaxial polydactyly,central obesity,mental retardation,hypogonadism,and renal dysfunction. Other associated clinical findings in BBS patients include diabetes,hypertension and congenital heart defects. BBS expression varies both within and between families and diagnosis is often difficult. Experimentation in non-human eukaryotes suggests that BBS5 is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized.