| NCF1C | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | NCF1C, SH3PXD1C, neutrophil cytosolic factor 1C pseudogene | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | GeneCards: NCF1C | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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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.[3] In chronic granulomatous disease, the functional NCF1 gene recombines with the two nearby pseudogenes (NCF1B, NCF1C) and becomes inactivated.[4]
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000165178 - Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "NCF1C neutrophil cytosolic factor 1C pseudogene [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-05-17.
- ↑ 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
- 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.
- 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. S2CID 7719460.
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