Gene: TAB3

Alternate names for this Gene: MAP3K7IP3|NAP1

Gene Summary: The product of this gene functions in the NF-kappaB signal transduction pathway. The encoded protein, and the similar and functionally redundant protein MAP3K7IP2/TAB2, forms a ternary complex with the protein kinase MAP3K7/TAK1 and either TRAF2 or TRAF6 in response to stimulation with the pro-inflammatory cytokines TNF or IL-1. Subsequent MAP3K7/TAK1 kinase activity triggers a signaling cascade leading to activation of the NF-kappaB transcription factor. The human genome contains a related pseudogene. Alternatively spliced transcript variants have been described, but their biological validity has not been determined.

Gene is located in Chromosome: X

Location in Chromosome : Xp21.2

Description of this Gene: TGF-beta activated kinase 1 (MAP3K7) binding protein 3

Type of Gene: protein-coding

rs11095197 in TAB3 gene and Common Variable Immunodeficiency PMID 21497890 2011 Genome-wide association identifies diverse causes of common variable immunodeficiency.