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.
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Protein Aliases: Bardet-Biedl syndrome 4 protein; BBS4
Gene Aliases: BBS4
UniProt ID: (Human) Q96RK4
Entrez Gene ID: (Human) 585