rs937597401
This variant is located in the NCF2 gene.
▶ClinVar annotation
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
View on ClinVar →About NCF2
This gene encodes neutrophil cytosolic factor 2, the 67-kilodalton cytosolic subunit of the multi-protein NADPH oxidase complex found in neutrophils. This oxidase produces a burst of superoxide which is delivered to the lumen of the neutrophil phagosome. Mutations in this gene, as well as in other NADPH oxidase subunits, can result in chronic granulomatous disease, a disease that causes recurrent infections by catalase-positive organisms. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010]
View all NCF2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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