BBS4

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Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Bardet-Biedl syndrome 4 is a protein that in humans is encoded by the BBS4 gene.[1][2][3]

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.[3]

Interactions

BBS4 has been shown to interact with DCTN1.[4]

References

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Further reading

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External links


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