Entrez 582 | Ensembl ENSG00000174483 | |
Aliases BBS1, BBS2L2, Bardet-Biedl syndrome 1 External IDs MGI: 1277215 HomoloGene: 11641 GeneCards: BBS1 | ||
Bardet-Biedl syndrome 1 protein is a protein that in humans is encoded by the BBS1 gene. BBS1 is part of the BBSome complex, which required for ciliogenesis. Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome.
History
As of 2008, research results indicated that the encoded protein may play a role in eye, limb, cardiac and reproductive system development.
References
BBS1 Wikipedia(Text) CC BY-SA