Aliases for NCF1C Gene
External Ids for NCF1C Gene
Previous GeneCards Identifiers for NCF1C Gene
The neutrophil cytosolic factor 1 (NCF1) gene encodes the 47 kDa cytosolic subunit of neutrophil NADPH oxidase, which produces superoxide anion. The NCF1 gene is located in close proximity to two highly similar, multi-exon pseudogenes at chromosome 7q11.23, corresponding to this gene record and GeneID:654816. The two pseudogenes contain a dinucleotide deletion (delta-GT) in exon 2 that results in a frameshift and truncation of the open reading frame, and neither pseudogene is likely to express a protein. Recombination events between the pseudogenes and the functional NCF1 gene can inactivate the NCF1 gene and result in chronic granulomatous disease. [provided by RefSeq, Nov 2009]
GeneCards Summary for NCF1C Gene
NCF1C (Neutrophil Cytosolic Factor 1C Pseudogene) is a Pseudogene. Diseases associated with NCF1C include Chronic Granulomatous Disease. GO annotations related to this gene include phosphatidylinositol binding and superoxide-generating NADPH oxidase activity.
UniProtKB/Swiss-Prot for NCF1C Gene
May be required for activation of the latent NADPH oxidase (necessary for superoxide production).