Severe congenital neutropenia: new lane for ELANE.
In this issue of Blood, Tidwell et al1 demonstrate that mutations in the start codon (protein synthesis is initiated at the codon ATG) of neutrophil elastase (ELANE) result in the production of N-terminally truncated elastase, which mislocates to the nucleus and results in severe congenital neutropenia (SCN).
UNIVERSITY OF COPENHAGEN.
Niels
N
Borregaard
D006801:Humans; D019272:Leukocyte Elastase / Q000235:genetics* / Q000378:metabolism*; D009154:Mutation; D009503:Neutropenia / Q000378:metabolism*; D014176:Protein Biosynthesis
D019272:Leukocyte Elastase