This target displays homology in the following species: Cow: 86%; Dog: 93%; Guinea Pig: 86%; Horse: 100%; Human: 100%; Mouse: 100%; Pig: 93%; Rat: 100%
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Bardet-Biedl syndrome 1 homolog; Bardet-Biedl syndrome 1 protein; Bardet-Biedl syndrome 1 protein homolog
Gene Aliases: AI451249; Bbs1; D19Ertd609e
UniProt ID: (Mouse) Q3V3N7
Entrez Gene ID: (Mouse) 52028