inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP)
Name: IKBKAP
Description: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
Orgname: Homo sapiens
Status: 0
CurrentID: 0
Chromosome: 9
GeneticSource: genomic
MapLocation: 9q31
OtherAliases: RP11-3J11.4, DKFZp781H1425, DYS, ELP1, FD, FLJ12497, IKAP, IKI3, TOT1
OtherDesignations:
NomenclatureSymbol: IKBKAP
NomenclatureName: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
NomenclatureStatus: Official
TaxID: 9606
Mim:
GenomicInfo:
GeneWeight: 9302
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]
ChrSort: 09
ChrStart: 111629799
UniProtein db: IKBKAP UniProt protein knowledge database
Ensembl db: IKBKAP Ensembl genome database
Complete information for IKBKAP gene (protein-coding), inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protei...
The IKBKAP gene is also known by other names, listed below. ... The IKBKAP gene is located on the long (q) arm of chromosome 9 at position 31. ...
IKBKAP (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex ... The IKBKAP gene is located on the long (q) arm of chromosome 9 at position 31, ...
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The Ikbkap gene product, Ikap, contains 37 exons that span approximately 51 kb. ... The Ikbkap gene maps to chromosome 4 in a region that is syntenic to human ...
Tissue-Specific Expression of a Splicing Mutation in the IKBKAP Gene ... Genomic structure of IKBKAP, showing orientation and placement of the 37 exons within a ...
Knock-out of mouse Ikbkap gene leads to embryonic lethality that can be rescued by human IKBKAP gene. ... Morphological analyses of the Ikbkap-/- embryos at different stages ...
AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
Genomic organization and chromosomal localization of the mouse IKBKAP gene*1 ... The mouse and human IKBKAP genes exhibit significant conservation of their ...
Tissue-Specific Reduction in Splicing Efficiency of IKBKAP D... Tissue-Specific Expression of a Splicing Mutation in the IKBKAP Gene Causes Familial Dysautonomia ...
Entrez Gene. Ibrahim el C, Hims MM, Shomron N, Burge CB, Slaugenhaupt SA, Reed R. Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia. ...
Human gene symbol report page for 'IKBKAP - inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein'
In January, 2001, the gene affected in Familial Dysautonomia was identified as the IKBKAP gene, which encodes for the IKAP protein. ...
Product details for anti-Inhibitor Of Kappa Light Polypeptide Gene Enhancer In B-cells, Kinase Complex-associated Protein (IKBKAP) (Human) antibody (ABIN214497) ...
We recently identified a mutation in the I-kB kinase associated protein (IKBKAP) gene as the major cause of familial. dysautonomia (FD), a recessive ...