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GENATLAS PHENOTYPE

last update : 01-04-2015

Symbol	SCNP1
Location	19p13.3
Name	severe congenital neutropenia 1
Other name(s)	Kostmann disease
Corresponding gene	ELANE
Other symbol(s)	SCN1
Main clinical features	persistent severe absolute neutropenia (500 neutrophils per microliter or fewer) and bone marrow morphology that suggests maturational arrest of neutrophil precursors at the promyelocyte stage
Genetic determination	autosomal dominant
Function/system disorder	hematology
Type	disease

Gene product

Name	elastase 2, neutrophil

Remark(s)

associated with defective expression of BCL2, constitutive mitochondrial release of cytochrome c, and excessive apoptosis of myeloid progenitor cells mutations result in the production of misfolded neutrophil elastase protein, activation of the unfolded protein response, and ultimately apoptosis of granulocytic precursors (Xia 2008)