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A novel G protein-coupled receptor kinase gene cloned from 4p16.3
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1992
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GeneticsGenomic MechanismMolecular BiologyMolecular GeneticsDisease Gene IdentificationMolecular PharmacologySignaling PathwayReceptor Tyrosine KinaseCell SignalingMolecular PhysiologyG Protein-coupled ReceptorReceptor (Biochemistry)Candidate RegionExon Amplification TechniqueProtein PhosphorylationSignal TransductionGenetic DisorderNatural SciencesCellular BiochemistrySystems BiologyMedicineFurther Signal Transduction
Within the Huntington's disease (HD) candidate region of 4p16.3, the D4S127 locus displays strong linkage disequilibrium with the defect and anchors a conserved haplotype found on many HD chromosomes. To isolate genes from this region we have applied the exon amplification technique to overlapping cosmids spanning D4S127. Here, we report the discovery of a new gene encoding a novel member of a family of protein kinases that specifically phosphorylate the activated forms of G protein-coupled receptors. Such kinases are thought to participate in desensitization of specific receptors, thereby blocking further signal transduction. This gene must now be carefully scrutinized to determine whether it might be involved in HD.