BBS5
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Bardet-Biedl syndrome 5 protein is a protein that in humans is encoded by the BBS5 gene.[1][2][3]
This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized.[3]
References
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Further reading
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External links
- BBS5 human gene location in the UCSC Genome Browser.
- BBS5 human gene details in the UCSC Genome Browser.
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