GENETIC ENCYCLOPEDIA
ABOUT US    

   

gene: NCF2

id4688
symbolNCF2
organismHomo sapiens
full nameneutrophil cytosolic factor 2
summaryThis 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]
variant-disease

NM_000433.3(NCF2):c.55_63del (p.Lys19_Asp21del) AND Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2

NM_000433.3(NCF2):c.606G>A (p.Ala202=) AND not specified

NM_000433.3(NCF2):c.130G>C (p.Gly44Arg) AND Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2

NM_000433.3(NCF2):c.305G>C (p.Arg102Pro) AND Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2

NM_000433.3(NCF2):c.409T>A (p.Trp137Arg) AND Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2

... 144 more


Partner site api screenshot on site-shot.com.