NCF1C explained
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.[1] In chronic granulomatous disease, the functional NCF1 gene recombines with the two nearby pseudogenes (NCF1B, NCF1C) and becomes inactivated.[2]
Further reading
- Merling RK, Kuhns DB, Sweeney CL, Wu X, Burkett S, Chu J, Lee J, Koontz S, Di Pasquale G, Afione SA, Chiorini JA, Kang EM, Choi U, De Ravin SS, Malech HL . 6 . Gene-edited pseudogene resurrection corrects p47phox-deficient chronic granulomatous disease . Blood Advances . 1 . 4 . 270–278 . January 2017 . 29296942 . 5727772 . 10.1182/bloodadvances.2016001214 .
- Merling RK, Kuhns DB, Sweeney CL, Wu X, Burkett S, Chu J, Lee J, Koontz S, Di Pasquale G, Afione SA, Chiorini JA, Kang EM, Choi U, De Ravin SS, Malech HL . 6 . Gene-edited pseudogene resurrection corrects p47phox-deficient chronic granulomatous disease . Blood Advances . 1 . 4 . 270–278 . January 2017 . 29296942 . 10.1182/bloodadvances.2016001214 . 5727772 . 7719460 . free .
Notes and References
- Web site: NCF1C neutrophil cytosolic factor 1C pseudogene [Homo sapiens (human)] - Gene - NCBI ]. 2022-05-17 . www.ncbi.nlm.nih.gov.
- Merling RK, Kuhns DB, Sweeney CL, Wu X, Burkett S, Chu J, Lee J, Koontz S, Di Pasquale G, Afione SA, Chiorini JA, Kang EM, Choi U, De Ravin SS, Malech HL . 6 . Gene-edited pseudogene resurrection corrects p47phox-deficient chronic granulomatous disease . Blood Advances . 1 . 4 . 270–278 . January 2017 . 29296942 . 5727772 . 10.1182/bloodadvances.2016001214 .