Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development.
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Protein Aliases: Bardet-Biedl syndrome 1 homolog; Bardet-Biedl syndrome 1 protein; Bardet-Biedl syndrome 1 protein homolog; BBS2-like protein 2
Gene Aliases: AI451249; BBS1; BBS2L2; D19Ertd609e