BBS4 gene

特許 権利維持 Bardet-Biedl syndrome 4 is a protein that in humans is encoded by the BBS4 gene.[1][2][3] This gene encodes a protein which contains tetratricopeptide repeats (TPR), similar to O-linked N-acetylglucosamine transferase. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 4. The encoded protein may play a role in pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation.