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The protein encoded by BBS12 is part of a complex that is involved in membrane trafficking. De plus, nous expédions et beaucoup plus de produits pour cette protéine.
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novel BBS12 mutations in Bardet-Biedl syndrome patients in Spain
BBS12 inactivation increases glucose absorption by mature human adipocytes, increases ins (Montrer INS Anticorps)ulin sensitivity, enhances glucose absorption and increases triglyceride content.
Mutation in BBS12 accounts for Bardet-Biedl syndrome and termination of pregnancy of a fetus.
Using sequence analysis, the role of BBS6 (Montrer MKKS Anticorps), 10 and 12 was assessed in a Bardet-Biedl syndrome patient population comprising 93 cases from 74 families.
BBS12 accounts for approximately 5% of all BBS (Montrer BBS2 Anticorps) cases and defines a novel branch of the type II chaperonin (Montrer HSPD1 Anticorps) superfamily
the BBS10 (Montrer BBS10 Anticorps) and BBS12 proteins are located within the basal body of this primary cilium and inhibition of their expression impairs ciliogenesis, activates the GSK3 (Montrer GSK3b Anticorps) pathway, and induces PPAR (Montrer PPARA Anticorps) nuclear accumulation, hence favoring adipogenesis
Despite increased obesity, glucose tolerance was increased with specific enhanced insulin (Montrer INS Anticorps) sensitivity in the adipocytes of Bbs12 knockout mice.
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.
Bardet-Biedl syndrome 12 protein
, Bardet-Biedl syndrome 12
, Bardet-Biedl syndrome 12 protein homolog
, Bardet-Biedl syndrome 12 protein-like