NCF1 neutrophil cytosolic factor 1

Gene ID: 653361, updated on 3-Nov-2024
Gene type: protein coding
Also known as: CGD1; NCF1A; NOXO2; p47phox; SH3PXD1A

Summary

The protein encoded by this gene is a 47 kDa cytosolic subunit of neutrophil NADPH oxidase. This oxidase is a multicomponent enzyme that is activated to produce superoxide anion. Mutations in this gene have been associated with chronic granulomatous disease. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 MedGen: C1856251OMIM: 233700GeneReviews: Chronic Granulomatous Disease	See labs

Genomic context

Location:: 7q11.23

Sequence:: Chromosome: 7; NC_000007.14 (74774011..74789315)

Total number of exons:: 11

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for NCF1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
NCF1 database
NCF1base: Mutation registry for autosomal recessive chronic granulomatous disease (CGD), deficiency of p47phox
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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