Pseudogene in the species Homo sapiens
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
^ 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 p47-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 p47-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 p47-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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NCF1C
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