Gene: IKBKB

Alternate names for this Gene: IKK-beta|IKK2|IKKB|IMD15|IMD15A|IMD15B|NFKBIKB

Gene Summary: The protein encoded by this gene phosphorylates the inhibitor in the inhibitor/NF-kappa-B complex, causing dissociation of the inhibitor and activation of NF-kappa-B. The encoded protein itself is found in a complex of proteins. Several transcript variants, some protein-coding and some not, have been found for this gene.

Gene is located in Chromosome: 8

Location in Chromosome : 8p11.21

Description of this Gene: inhibitor of nuclear factor kappa B kinase subunit beta

Type of Gene: protein-coding

rs1563340753 in IKBKB gene and IMMUNODEFICIENCY 15A PMID 30337470 2018 Gain-of-function IKBKB mutation causes human combined immune deficiency.

rs16891227 in IKBKB gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs16891227 in IKBKB gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs17875677 in IKBKB gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.