BBS4 contains tetratricopeptide repeats (TPR), similar to O-linked N-acetyglucosamine transferase. Mutations in the gene encoding this protein have been observed in patients with Bardet-Biedl syndrome type 4. BBS4 may play a role in pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation.
应用类型
WB
免疫原
This BBS4 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 337-369 amino acids from the Central region of human BBS4.
