{"symbol":"NCF1C","synonyms":["SH3PXD1C"],"name":"neutrophil cytosolic factor 1C pseudogene","description":"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]","ncbiEntrezGeneId":654817,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/654817","proteins":[{"symbol":"NCF1C_HUMAN","href":"/api/1.0/protein/NCF1C_HUMAN"}],"hgncRootFamilies":[]}