NCF1C

NCF1C
Identifiers
AliasesNCF1C, SH3PXD1C, neutrophil cytosolic factor 1C pseudogene
External IDsGeneCards: NCF1C
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)Chr 7: 75.16 – 75.17 Mbn/a
PubMed searchn/a
Wikidata
View/Edit Human

NCF1C is a human pseudogene related to NCF1 (neutrophil cytosol factor 1), the latter being responsible for encoding the 47 kDA cytosolic subunit of NADPH oxidase. In chronic granulomatous disease, the functional NCF1 gene recombines with the two nearby pseudogenes (NCF1B, NCF1C) and becomes inactivated.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000165178 – Ensembl, May 2017
  2. ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ↑ "NCF1C neutrophil cytosolic factor 1C pseudogene [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-05-17.
  4. ↑ Merling RK, Kuhns DB, Sweeney CL, Wu X, Burkett S, Chu J, et al. (January 2017). "Gene-edited pseudogene resurrection corrects p47phox-deficient chronic granulomatous disease". Blood Advances. 1 (4): 270–278. doi:10.1182/bloodadvances.2016001214. PMC 5727772. PMID 29296942.

Further reading