Bardet–Biedl syndrome 4 is a protein that in humans is encoded by the BBS4 gene.[5][6][7]
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.[7]
BBS4 has been shown to interact with DCTN1.[8]
Ciliary proteins
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Nephrocystin |
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Basal body |
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Cilia |
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Dynein |
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Radial spokes |
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Other |
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see also: ciliopathy |
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