BBS4

Bardet-Biedl syndrome 4 is a is_associated_with::protein that in humans is encoded by the BBS4 is_associated_with::gene.

This gene encodes a protein which contains is_associated_with::tetratricopeptide repeats (TPR), similar to O-linked N-acetylglucosamine transferase. Mutations in this gene have been observed in patients with is_associated_with::Bardet-Biedl syndrome type 4. The encoded protein may play a role in is_associated_with::pigmentary retinopathy, is_associated_with::obesity, is_associated_with::polydactyly, renal malformation and is_associated_with::mental retardation.

Interactions
BBS4 has been shown to interact with is_associated_with::DCTN1.