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ELANE - elastase, neutrophil expressed
- Synonym(s) : HLE, HNE, leukocyte elastase, medullasin, NE, neutrophil elastase
- Previous symbols and names : ELA2, elastase 2, neutrophil
- Type : gene with protein product
- Chromosomal location : 19p13.3
- OMIM: 130130
- HGNC: 3309
- UniProtKB: P08246
- Genatlas: ELANE
- Ensembl: ENSG00000197561
- IUPHAR-DB: 2358
- Reactome: P08246
- LOVD: ELANE
Diseases list
- Disease-causing germline mutation(s) in Autosomal dominant severe congenital neutropenia
ORPHA:486 
- Disease-causing germline mutation(s) in Cyclic neutropenia
ORPHA:2686
: AssessedAdditional information
Health care resources for this gene
Research activities on this gene
Specialised Social Services
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