NCF1C

NCF1C
Identifiers
AliasesNCF1C, SH3PXD1C, neutrophil cytosolic factor 1C pseudogene
External IDsGeneCards: NCF1C; OMA:NCF1C - orthologs
Orthologs
SpeciesHumanMouse
Entrez

654817

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Ensembl

ENSG00000165178

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UniProt

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a

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RefSeq (mRNA)

n/a

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RefSeq (protein)

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Location (UCSC)Chr 7: 75.16 – 75.17 Mbn/a
PubMed search[2]n/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.[3] In chronic granulomatous disease, the functional NCF1 gene recombines with the two nearby pseudogenes (NCF1B, NCF1C) and becomes inactivated.[4]

References

  1. ^ a b c 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

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