NCF4 wt Allele

Preferred Label : NCF4 wt Allele;

NCIt synonyms : P40PHOX; NCF, 40-kD Gene; NCF; P40 PHOX; SH3PXD4; Neutrophil Cytosolic Factor 4, 40kDa Gene; Neutrophil Cytosolic Factor 4 wt Allele; P40-PHOX; Neutrophil Cytosolic Factor 4 (40kD) Gene;

NCIt definition : Human NCF4 wild-type allele is located in the vicinity of 22q12.3 and is approximately 17 kb in length. This allele, which encodes neutrophil cytosol factor 4 protein, is involved in the regulation of NADPH-oxidase activity in phagocytes. Mutation of the gene is associated with autosomal recessive chronic granulomatous disease 3.;

NCI Metathesaurus CUI : CL1662240;

GenBank Accession Number : X77094;

Details

Origin ID

C179382;

UMLS CUI

C5551046;

Automatic exact mappings (from CISMeF team)
- Neutrophil cytosolic factor 4 [OMIM gene]
- neutrophil cytosol factor 40K [MeSH Supplementary Concept]
- neutrophil cytosolic factor 4 [ORDO Gene]
OMIM relation
- Neutrophil cytosolic factor 4 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Leishmaniasis Infection Pathway [NCIt concept]
- Leukocyte Transendothelial Migration Pathway [NCIt concept]
- Phagocytosis Pathway [NCIt concept]
- Prion Disease Pathway [NCIt concept]
gene_plays_role_in_process
- Antigen Presentation [NCIt concept]
- Antigen Processing [NCIt concept]
- Immune System Process [NCIt concept]
- Oxidative Burst [NCIt concept]
- Phagocytosis [NCIt concept]

Keyword's position in hierarchy(ies) :

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