Automated description from the Alliance of Genome Resources (Release 7.0.0)
Predicted to enable RNA polymerase II-specific DNA-binding transcription factor binding activity. Involved in several processes, including fat cell differentiation; negative regulation of appetite by leptin-mediated signaling pathway; and regulation of cilium beat frequency involved in ciliary motility. Acts upstream of or within several processes, including blood vessel diameter maintenance; brain development; and cilium assembly. Located in several cellular components, including microvillus; motile cilium; and stereocilium. Part of BBSome. Is expressed in central nervous system; early embryo; and retina. Used to study Bardet-Biedl syndrome 2. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 2; obesity; and retinitis pigmentosa 74. Orthologous to human BBS2 (Bardet-Biedl syndrome 2).