Article
A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity.
Human mutation - 1 Dec 2017
Purcell Ryan H, Toro Camilo, Gahl William A, Hall Randy A
Abstract excerpt
Mutations in G protein-coupled receptors (GPCRs) that increase constitutive signaling activity can cause human disease. A de novo C-terminal mutation (R1465W) in the adhesion GPCR BAI2 (also known as ADGRB2) was identified in a patient suffering from progressive spastic paraparesis and other neurological symptoms. In vitro studies revealed that this mutation strongly increases the constitutive signaling activity...
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