Entrez gene ID | | 654817 |
Official gene symbol | | NCF1C |
Full name | | neutrophil cytosolic factor 1C pseudogene |
Aliases | | ,SH3PXD1C, |
Gene 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] |
Location | | Chromosome: 7 Locus: 7q11.23 |
Gene position | | 74587816 - 74572384 Map Viewer |
Gene orientation | | minus |
Gene size | | 15433 bp |
Gene sequence |
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