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FLASH GENE
Symbol ENTPD1 contributors: mct - updated : 05-12-2016
HGNC name ectonucleoside triphosphate diphosphohydrolase 1
HGNC id 3363
ASSOCIATED DISORDERS
corresponding disease(s) SPG64
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --over  
correlated with better long-term survival after tumor resection in patients with pancreatic cancer
tumoral     --over  
in malignant epithelial cells of human rectal adenocarcinoma
constitutional     --low  
decreased in the late-onset preeclamptic (PE) placenta
Susceptibility
Variant & Polymorphism
Candidate gene marker of a Treg subset likely involved in the control of the inflammatory autoimmune disease
Marker
  • dysregulated levels of ENTPD1 genes may be involved in sepsis pathophysiology and may be utilized as potential diagnostic biomarker
  • ENTPD1 may act as potential markers for the clinical diagnosis of PE
  • Therapy target
    SystemTypeDisorderPubmed
    dermatologyskin 
    biochemical or biological inhibitors of ENTPD1 and/or NT5E may hold promise in the treatment of dermal fibrosis in diseases such as scleroderma
    cancerhemopathy 
    may serve as a future target for the development of novel therapies with immune-modulating antitumor agents in chronic lymphocytic leukemia
    reproductionpregnancyplacenta
    CD39 is a target for the clinical treatment of PE
    ANIMAL & CELL MODELS
  • Entpd1 null mice exhibit decreased synaptic efficacy, presumably due to desensitization P2X1 receptors
  • in rat models of DNA damage, inhibiting Entpd1-driven ATP hydrolysis with POM-1 protected the heart and lung tissues against chemically induced DNA damage