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| Gene Symbol | ELANE | ||||||||||
| Synonyms | ELA2 | GE | HLE | HNE | NE | PMN-E | SCN1 | ||||||||||
| Gene Description | ELANE, elastase, neutrophil expressed, encodes a serine protease that functions in destruction of microbial pathogens and regulation of inflammatory response (PMID: 34439732, PMID: 21079042), and is commonly mutated in congenital neutropenia (PMID: 23351986, PMID: 33968054). Increased Elane expression been demonstrated in colorectal cancer (PMID: 24457622) and decreased Elane expression has been identified in ophthalmic tumors (PMID: 39053449). | ||||||||||
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