BBS4
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Lua error in Module:Infobox_gene at line 53: 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 intellectual disability.[3]
Interactions
[edit | edit source]BBS4 has been shown to interact with DCTN1.[4]
References
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Further reading
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External links
[edit | edit source]- GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome
- Human BBS4 genome location and BBS4 gene details page in the UCSC Genome Browser.
