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FLASH GENE
Symbol BBS12 contributors: mct/npt - updated : 21-12-2020
HGNC name Bardet-Biedl syndrome 12
HGNC id 26648
ASSOCIATED DISORDERS
corresponding disease(s) BBS12
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
impairs ciliogenesis, activates the glycogen synthase kinase 3 pathway, and induces peroxisome proliferator-activated receptor nuclear accumulation, hence favoring adipogenesis (Marion 2009)
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • in Bbs12 (-/-)mouse, despite increased obesity, glucose tolerance was increased with specific enhanced insulin sensitivity in the fat