LP97597-6
IKBKG gene
Active
Descriptions
Inhibitor of Kappa Light Polypeptide Gene Enhancer in B Cells Gamma Kinase (IKBKG), also known as NF-Kappa-B Essential Modulator (NEMO), is a protein that is a subunit of the IκB kinase that activates NF-κB, known as Inhibitor of kappa B Kinase (IKK). The gene for IKBKG is located on chromosome Xq28. Multiple transcript variants encoding different isoforms have been found for this gene.
Mutations in the IKBKG gene results in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies.
Incontinentia Pigmenti (IP) is an X-linked dominant disease caused by a mutation in the IKBKG gene. Since IKBKG helps activate NF-κB, which protects cells against TNF-alpha induced apoptosis, a lack of IKBKG (and hence a lack of active NF-κB) makes cells more prone to apoptosis.
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Source: Wikipedia,
Wikipedia
The IKBKG gene (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma) [HGNC Gene ID:5961] is located on chromosome Xq28. This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways. Mutations in this gene result in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies. Multiple transcript variants encoding different isoforms have been found for this gene. A pseudogene highly similar to this locus is located in an adjacent region of the X chromosome. [provided by RefSeq, Aug 2011] [NCBI Gene ID:8517] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- IKBKG gene
- Part Display Name
- IKBKG gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2009-10-29
- Construct for LOINC Short Name
- IKBKG gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | IKBKG 基因 Synonyms: inhibitor of kappaB kinase gamma; |
| et-EE | Estonian (Estonia) | IKBKG geen |
| es-ES | Spanish (Spain) | Gen IKBKG |
| it-IT | Italian (Italy) | IKBKG, gene Synonyms: Gene IKBKG |
| tr-TR | Turkish (Turkey) | IKBKG geni |
| ru-RU | Russian (Russian Federation) | IKBKG ген |
| nl-NL | Dutch (Netherlands) | IKBKG-gen Synonyms: IKBKG gen |
| fr-FR | French (France) | IKBKG gène |
| pl-PL | Polish (Poland) | IKBKG gen Synonyms: Gen IKBKG |
| el-GR | Greek (Greece) | Γονίδιο IKBKG Synonyms: Γονίδιο IKBKG |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://