BBS2
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Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Bardet–Biedl syndrome 2 protein is a protein that in humans is encoded by the BBS2 gene.[1][2]
This gene encodes a protein of unknown function. Mutations in this gene have been observed in patients with Bardet–Biedl syndrome type 2. Bardet–Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation, and mental retardation.[2]
References
[edit | edit source]External links
[edit | edit source]- GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome
- Human BBS2 genome location and BBS2 gene details page in the UCSC Genome Browser.
Further reading
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