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Literature summary for 3.4.21.37 extracted from

  • Wiesmeier, M.; Gautam, S.; Kirschnek, S.; Haecker, G.
    Characterisation of neutropenia-associated neutrophil elastase mutations in a murine differentiation model in vitro and in vivo (2016), PLoS ONE, 11, e0168055 .
    View publication on PubMedView publication on EuropePMC
Search for more literature for 3.4.21.37

Cloned(Commentary)

Cloned (Comment) Organism
expressed in HEK-293FT cells Mus musculus
expressed in HEK-293FT cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
G185R the mutation is associated with congenital neutropenia Mus musculus
G185R the mutation is associated with congenital neutropenia Homo sapiens
S97L the mutation is associated with cyclic neutropenia Mus musculus
S97L the mutation is associated with cyclic neutropenia Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-
Mus musculus
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
neutrophil
-
 Mus musculus
-
neutrophil
-
 Homo sapiens
-

Subunits

Subunits Comment Organism
? x * 30000, SDS-PAGE Mus musculus
? x * 30000, SDS-PAGE Homo sapiens

Synonyms

Synonyms Comment Organism
Elane
-
 Mus musculus
Elane
-
 Homo sapiens
neutrophil elastase
-
 Mus musculus
neutrophil elastase
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction mutations in the enzyme can either cause severe congenital neutropenia or cyclic neutropenia Mus musculus
malfunction mutations in the enzyme can either cause severe congenital neutropenia or cyclic neutropenia Homo sapiens