Pseudogene in the species Homo sapiens
| NCF1C |
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| Identifiers |
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| Aliases | NCF1C, SH3PXD1C, neutrophil cytosolic factor 1C pseudogene |
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| External IDs | GeneCards: NCF1C; OMA:NCF1C - orthologs |
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| Gene location (Human) |
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 | | Chr. | Chromosome 7 (human)[1] |
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| | Band | 7q11.23 | Start | 75,156,639 bp[1] |
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| End | 75,172,044 bp[1] |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | | |
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| RefSeq (protein) | | |
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| Location (UCSC) | Chr 7: 75.16 – 75.17 Mb | n/a |
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| PubMed search | [2] | n/a |
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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
- ^ a b c 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.
