BBS2

58367378ENSG00000125124ENSMUSG00000031755Q9BXC9Q9CWF6NM_031885NM_026116NP_114091NP_080392Bardet-Biedl syndrome 2 protein is a protein that in humans is encoded by the BBS2 gene. Bardet-Biedl syndrome 2 protein is a protein that in humans is encoded by the BBS2 gene. This gene encodes a protein of unknown function. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 2. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation, and mental retardation.