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FLASH GENE
Symbol ELANE contributors: mct/npt - updated : 23-11-2017
HGNC name elastase, neutrophil expressed
HGNC id 3309
ASSOCIATED DISORDERS
corresponding disease(s) ELA2 , SCNP1
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation      
in severe congenital neutropenia
constitutional germinal mutation      
associated with a defect in NETosis and a distinct syndrome of recurrent viral infection and chronic inflammation
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
  • potential of ELANE and CTSG to be used as markers for early detection of infection
  • Therapy target
    SystemTypeDisorderPubmed
    immunologyinfectious 
    cell-permeable inhibitors of neutrophil elastase show promise as novel therapies for ELANE-associated neutropenia
    cancerhemopathy 
    may therefore represent a molecular target for the treatment of pro‑myelocytic leukemia
    cancerreproductivebreast
    imbalance between ELANE and its inhibitors, such as PI3 , presents an important therapeutic target in breast cancer
    ANIMAL & CELL MODELS