Gene:
Bardet-Biedl syndrome 2
Gene ID:
191572
Symbol:
BBS2
Species:
1000
Description:
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.