RAPID: Resource of Primary Immunodeficiency Diseases

Last updated on May 20, 2013

NCF4

mRNA IDs

Primary Information

NM_000631.4, NM_013416.3

Gene Symbol

NCF4

Protein Name

neutrophil cytosolic factor 4, 40kDa

Alternate Names

MGC3810

NCF

P40PHOX

SH3PXD4

Gene Locus

22q13.1

Disease name	Characteristic / Associated features	Category	Inheritance type
p40phox deficiency	Ulcerative colitis; decreased activity of NADPH oxidase; perianal rash; diarrhea; episodic abdominal pain; mild fever; weight loss; perioral eczema; aphthous ulcers	Congenital defects of Phagocyte number, function or both	Autosomal recessive

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