Symbol
| ELANE
| contributors: mct/npt - updated : 23-11-2017
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HGNC name
| elastase, neutrophil expressed
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HGNC id
| 3309
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Other morbid association(s)
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Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
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constitutional
| germinal mutation
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in severe congenital neutropenia | constitutional
| germinal mutation
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associated with a defect in NETosis and a distinct syndrome of recurrent viral infection and chronic inflammation | |
Variant & Polymorphism
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Candidate gene
Marker
| potential of ELANE and CTSG to be used as markers for early detection of infection | Therapy target
|
System | Type | Disorder | Pubmed |
immunology | infectious | | |
cell-permeable inhibitors of neutrophil elastase show promise as novel therapies for ELANE-associated neutropenia | cancer | hemopathy | | |
may therefore represent a molecular target for the treatment of pro‑myelocytic leukemia | cancer | reproductive | breast | |
imbalance between ELANE and its inhibitors, such as PI3 , presents an important therapeutic target in breast cancer |
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