NCF1C, Official Symbol NCF1Cprovided by HGNC Official Full Name neutrophil cytosolic factor 1C (pseudogene)provided by HGNC Primary source HGNC:HGNC:32523 See related Ensembl:ENSG00000165178 AllianceGenome:HGNC:32523 Gene type pseudo RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SH3PXD1C Summary 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] Expression Biased expression in bone marrow (RPKM 81.6), spleen (RPKM 45.1) and 10 other tissues See more