Bardet–Biedl syndrome 4 is a protein that in humans is encoded by the BBS4 gene.
Bardet–Biedl syndrome 4 is a protein that in humans is encoded by the BBS4 gene.
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 intellectual disability.
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).