Entrez 583 | Ensembl ENSG00000125124 | |
Aliases BBS2, BBS, RP74, Bardet-Biedl syndrome 2 External IDs MGI: 2135267 HomoloGene: 12122 GeneCards: BBS2 |
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.
References
BBS2 Wikipedia(Text) CC BY-SA