Entrez gene ID | | 8518 |
Official gene symbol | | IKBKAP |
Full name | | inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein |
Aliases | | ,DKFZp781H1425,DYS,ELP1,FD,FLJ12497,IKAP,IKI3,TOT1, |
Gene summary | | The protein encoded by this gene is a scaffold protein and a regulator for 3 different kinases involved in proinflammatory signaling. This encoded protein can bind NF-kappa-B-inducing kinase (NIK) and IKKs through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. [provided by RefSeq] |
Location | | Chromosome: 9 Locus: 9q31 |
Gene position | | 111696608 - 111629800 Map Viewer |
Gene orientation | | minus |
Gene size | | 66809 bp |
Gene sequence |
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OMIM ID | | 603722 |