BBS12 Back

Bardet-Biedl syndrome 12

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NCBI Description of BBS12
The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript variants encoding the same protein have been found for this gene.

Community Annotation of BBS12 Add / Edit BBS12: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

BBS12 is highly significantly mutated in
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BBS12 is significantly mutated in
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BBS12 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for BBS12