IKBKG wt Allele

Preferred Label : IKBKG wt Allele;

NCIt synonyms : IP2; IKK-gamma; IP; FIP3; FIP-3; NEMO; Fip3p; IP1; Inhibitor of Kappa Light Polypeptide Gene Enhancer in B-Cells, Kinase Gamma wt Allele; AMCBX1; IPD2;

NCIt definition : Human IKBKG wild-type allele is located in the vicinity of Xq28 and is approximately 25 kb in length. This allele, which encodes NF-kappa-B essential modulator protein, is involved in the modulation of signaling. Mutations in the gene are associated with incontinentia pigmenti and several immunodeficiency diseases.;

NCIt note : Defects in the IKBKG gene are a factor in the following immunodeficiencies; recurrent isolated invasive pneumococcal disease type 2, susceptibility to X-linked familial atypical micobacteriosis type 1, immunodeficiency without anhidrotic ectodermal dysplasia, ectodermal dysplasia anhidrotic with immunodeficiency-osteopetrosis-lymphedema, and ectodermal dysplasia anhidrotic with immunodeficiency X-linked. (UniProt);

GenBank Accession Number : AF074382;

Details

Origin ID

C75608;

UMLS CUI

C2697645;

OMIM relation
- Inhibitor of nuclear factor kappa-b kinase, regulatory subunit gamma [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xq28 [NCIt concept]
gene_plays_role_in_process
- Immune Response Process [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients