Symbol
| BBS12
| contributors: mct/npt - updated : 21-12-2020
|
HGNC name
| Bardet-Biedl syndrome 12
|
HGNC id
| 26648
|
corresponding disease(s)
|
BBS12
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein 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) | |
Variant & Polymorphism
|
| |
Candidate gene
Marker
Therapy target
| | | |
| in Bbs12 (-/-)mouse, despite increased obesity, glucose tolerance was increased with specific enhanced insulin sensitivity in the fat |