CYBA wt Allele

Preferred Label : CYBA wt Allele;

NCIt synonyms : Cytochrome B-245 Alpha Chain wt Allele; Cytochrome B(558), Alpha Subunit Gene; Cytochrome B-245, Alpha Polypeptide Gene; Flavocytochrome B-558 Alpha Polypeptide Gene; Cytochrome B(-245), Alpha Subunit Gene; p22 phox; Cytochrome B Light Chain Gene; p22phox; Cytochrome B, Alpha Polypeptide Gene; Cytochrome B(558) Alpha-Subunit Gene; CGD4; p22-PHOX;

NCIt definition : Human CYBA wild-type allele is located in the vicinity of 16q24.2 and is approximately 8 kb in length. This allele, which encodes cytochrome B-245 light chain protein, plays a role in phagocyte synthesis of superoxide. Mutation of the gene is associated with autosomal recessive chronic granulomatous disease 4.;

NCI Metathesaurus CUI : CL1662241;

GenBank Accession Number : NM_000101;

Details

Origin ID

C179377;

UMLS CUI

C5551137;

Automatic exact mappings (from CISMeF team)
- Cytochrome B(-245), alpha subunit [OMIM Phenotype]
- Cytochrome b(-245), alpha subunit [OMIM gene]
- Granulomatous disease, chronic, autosomal recessive, 4 [OMIM Phenotype]
- cytochrome b-245 alpha chain [ORDO Gene]
OMIM relation
- Cytochrome B(-245), alpha subunit [OMIM Phenotype]
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]
- NOD-Like Receptor Signaling Pathway [NCIt concept]
- Phagocytosis Pathway [NCIt concept]
- Prion Disease Pathway [NCIt concept]
gene_plays_role_in_process
- Cell-Mediated Cytotoxicity [NCIt concept]
- Degranulation [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]
- Oxidative Burst [NCIt concept]
- pH Homeostasis [NCIt concept]

Keyword's position in hierarchy(ies) :

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