CYBB wt Allele

Preferred Label : CYBB wt Allele;

NCIt synonyms : GP91-PHOX; NOX2; Cytochrome b(588), Beta Subunit Gene; CGD; AMCBX2; GP91-1; Cytochrome B-245 Beta Chain wt Allele; Cytochrome b(-245), Beta Subunit Gene; Cytochrome B-245, Beta Polypeptide Gene; CGDX; gp91 phox;

NCIt definition : Human CYBB wild-type allele is located in the vicinity of Xp21.1 and is approximately 33 kb in length. This allele, which encodes cytochrome B-245 heavy chain protein, is involved in the microbicidal oxidase system of phagocytes. Mutations in this gene are associated with both atypical mycobacteriosis, familial, X-linked 2 and chronic granulomatous disease, X-linked.;

GenBank Accession Number : NM_000397;

Détails

Origin ID

C106595;

UMLS CUI

C3811755;

Automatic exact mappings (from CISMeF team)
- Chronic granulomatous disease [ORDO Disease]
- Chronic granulomatous disease [ICD-11 More detail]
- Cytochrome b(-245), beta subunit [OMIM gene]
- Granulomatous disease, chronic, X-linked [OMIM Phenotype]
- Immunodeficiency 34 [OMIM Phenotype]
- Peroxisome biogenesis disorder 8a (zellweger) [OMIM Phenotype]
- atypical mycobacteriosis, familial, X-Linked 2 [MeSH Supplementary Concept]
- chronic granulomatous disease [DO Concept]
- cytochrome b-245 beta chain [ORDO Gene]
- granulomatous disease, chronic [MeSH Descriptor]
- immunodeficiency 34 [DO Concept]
OMIM relation
- Cytochrome b(-245), beta subunit [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
- Alzheimer's Disease Pathway KEGG [NCIt concept]
- 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]
- Ion Transport Process [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]
- Oxidative Burst [NCIt concept]
- pH Homeostasis [NCIt concept]

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