Entrez gene ID | | 8517 |
Official gene symbol | | IKBKG |
Full name | | inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma |
Aliases | | ,AMCBX1,FIP-3,FIP3,Fip3p,IKK-gamma,IP,IP1,IP2,IPD2,NEMO, |
Gene summary | | 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. [supplied by RefSeq] |
Location | | Chromosome: X Locus: Xq28 |
Gene position | | 153770459 - 153793261 Map Viewer |
Gene orientation | | plus |
Gene size | | 22803 bp |
Gene sequence |
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OMIM ID | | 300248 |
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