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FLASH GENE
Symbol SGK1 contributors: mct/npt/pgu - updated : 04-11-2016
HGNC name serum/glucocorticoid regulated kinase 1
HGNC id 10810
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral       gain of function
in clear cell renal carcinoma with good outcome
constitutional       gain of function
leading to hypertension but also to enhanced SLC5A1 activity and obesity
constitutional     --over  
strongly correlates with the occurrence of cell death
tumoral somatic mutation      
in germinal centre B-cell
constitutional       gain of function
in Alzheimer disease (AD)
constitutional       loss of function
SGK1 deficiency impaired platelet tethering, adhesion and thrombus formation
Susceptibility
  • to blood pressure change over time and strength of the insulin-diastolic blood pressure relationship
  • to type 2 diabetes
  • Variant & Polymorphism other
  • polymorphisms increasing the risk of blood pressure change over time and strength of the insulin-diastolic blood pressure relationship
  • risk haplotype (I6CC/E8CC/CT) was significantly more frequent in diabetic patients
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cardiovascularatheroma 
    inhibition of SGK1 activity is a novel therapeutic approach for the treatment of occlusive vascular diseases
    respiratorylung 
    may be a potential therapeutic target for the treatment of pulmonary arterial hypertension
    immunologyinflammatory 
    therapeutic target for the treatment of inflammatory disease
    ANIMAL & CELL MODELS