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FLASH GENE
Symbol GRK5 contributors: mct/npt - updated : 03-05-2016
HGNC name G protein-coupled receptor kinase 5
HGNC id 4544
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --over  
in the dysfunctional heart, and in failing myocardium may have unique significance due to its nuclear localization
constitutional       loss of function
deficiency linked to early Alzheimer disease (AD) (Liu 2009)
constitutional     --low  
impairs presynaptic M2 autoreceptor desensitization, which leads to a reduced acetylcholine release, axonal/synaptic degenerative changes, and associated amnestic, mild cognitive impairment
constitutional     --over  
in heart failure (HF)
Susceptibility
  • to heart failure
  • to cardiovascular and cerebrovascular disease
  • Variant & Polymorphism other
  • polymorphism that inhibits ADRB1 signaling is protective in heart failure
  • rs10886430 variant regulates platelet cell traits and GRK5 platelet gene expression, as well as both cardiovascular and cerebrovascular disease pathologies
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    bloodcoagulation 
    finding a mechanism to maintain GRK5 activity in platelets could prove beneficial in preventing venous and arterial cardiovascular disease (CVD)
    ANIMAL & CELL MODELS
  • Grk5 deficiency in mouse leads to susceptibility to intermittent hypoxia-induced cognitive impairment
  • when fed on a high-fat diet, GRK5(-/-) mice gained significantly less weight and had decreased WAT mass than their wild type littermates, which could not be attributed to alterations in food consumption or energy expenditure