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Literature summary for 3.4.21.37 extracted from
- Neutrophil elastase is severely down-regulated in severe congenital neutropenia independent of ELA2 or HAX1 mutations but dependent on LEF-1 (2009), Blood, 114, 3044-3051.
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| down | severe congenital neutropenia is a heterogeneous disorder of myelopoiesis, which follows an autosomal dominant or autosomal recessive pattern of inheritance, and leads to suppression of neutrophil elastase and reduced enzyme protein levels in plasma | Homo sapiens |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
- |
- |
Source Tissue
| Source Tissue | Comment | Organism | Textmining |
|---|---|---|---|
| neutrophil | - |
Homo sapiens | - |
| plasma | - |
Homo sapiens | - |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| neutrophil elastase | - |
Homo sapiens |
General Information
| General Information | Comment | Organism |
|---|---|---|
| malfunction | ELA2 mRNA expression in myeloid progenitors and plasma protein levels of neutrophil elastase are markedly reduced in patients with congenital neutropenia harboring mutations in either ELA2 or HAX-1 genes | Homo sapiens |
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Release 2023.1 (January 2023)
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