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FLASH GENE
Symbol NR1H4 contributors: mct/npt/pgu - updated : 21-03-2018
HGNC name nuclear receptor subfamily 1, group H, member 4
HGNC id 7967
ASSOCIATED DISORDERS
corresponding disease(s) PFIC5
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
in the liver in PFIC1 with severe cholestasis
constitutional     --low  
GPBAR1 and NR1H4 expression levels are decreased in the aging kidney and that caloric restriction prevents these age-related decreases
constitutional     --over  
of NR1H4, NR0B2, SLC10A1 and ABCB11 was significantly up-regulated in the non-alcoholic steatohepatitis (NASH) in comparison with simple steatosis (SS) patients
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
  • Src-mediated NR1H4 phosphorylation is a potential biomarker for Bile-acid-related enterohepatic diseases
  • Therapy target
    SystemTypeDisorderPubmed
    digestive  
    NR1H4 agonists may increase gallbladder fluid secretion through transcriptional activation of VIPR1, which may contribute to the regulation of bile secretion by bile salts and to a protective effect of NR1H4 pharmacological agonists in gallstone disease
    diabete  
    emerging role of NR1H4 agonists as therapeutic treatment of diabetes and certain liver diseases
    cardiovascularatheroma 
    NR1H4-NR0B2 way may be a novel therapeutic target for vascular inflammation, remodeling, and atherosclerotic plaque stability
    cardiovascular  
    in smooth muscle cells may serve as a novel molecular target for modulating AGTR2 signalling in the vasculature
    diabete  
    activation of both NR1H4 and GPBAR1 may represent an effective therapy for diabetes
    digestiveliversteatosis
    activation of both NR1H4 and GPBAR1 may represent an effective therapy for managing hepatic steatosis
    miscelleaneousurinary 
    NR1H4 and GPBAR1 agonists play an important role in preventing progression of kidney disease, atherosclerosis, and vascular calcification
    neurologyacquired 
    NR1H4 agonists, such as GW4064, represent a potential therapeutic approach for multiple sclerosis (MS) which specifically targets peripheral immune cells including macrophages but not brain-resident cells, such as oligodendrocytes, astrocytes or microglia
    immunologyinfectious 
    may represent a therapeutic strategy for cholestasis-associated sepsis
    miscelleaneousvascularischemic injury
    is a potential target for the prevention of atherothrombotic disease
    cancerdigestiveliver
    NR1H4-SOCS3 signaling may serve as a new potential target for the prevention/treatment of hepatocellular carcinoma
    digestive  
    Src-mediated NR1H4 phosphorylation is a potential therapeutic target for Bile-acid-related enterohepatic diseases
    ANIMAL & CELL MODELS
  • mice lacking expression of Fxr in the intestine were resistant to high-fat diet (HFD)-induced obesity, insulin resistance, and nonalcoholic fatty liver disease, thus confirming that intestinal Fxr is involved in the potentiation of metabolic disease