Bardet Biedl Syndrome Protein 1 (BBS1)

Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. BBS1 may play a role in eye, limb, cardiac and reproductive system development.

By positional cloning, Mykytyn et al. (2002) identified the gene that is mutant in Bardet-Biedl syndrome-1. It was selected for further examination because its encoded protein had modest similarity to the BBS2 protein sequence. The gene consists of 3,370 bp with an open reading frame of 593 codons. By Northern blot analysis, Mykytyn et al. (2002) demonstrated that BBS1 is ubiquitously expressed, including expression in fetal tissues, testes, retina, and adipose tissue. The pattern of expression is similar to that seen for the 3 previously identified BBS genes: BBS2, BBS4, and BBS6 (MKKS).