| Symbol
| NFKB1
| contributors: shn/npt/pgu - updated : 08-06-2019
|
| HGNC name
| nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
|
| HGNC id
| 7794
|
| corresponding disease(s)
|
CVID12
|
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| constitutional
|
|
|
| gain of function
|
bile acids evoke placental inflammation by activating GPBAR1/NFKB1 pathway in intrahepatic cholestasis of pregnancy  | |
| Susceptibility
|
to ulcerative colitis and many inflammatory diseases to alcohol dependence to variation of risk of infection and allergy |
| Variant & Polymorphism
SNP
, other
| 94delATTG increases the risk for ulcerative colitis |
|
SNP significantly associated with alcohol dependence |
|
insertion-deletion variant thought to affect NFKB1 expression (rs28362491), could play a key role in regulation of the immune response |
| 
|
Candidate gene
Marker
Therapy target
|
|
| System | Type | Disorder | Pubmed |
|---|
| immunology | inflammatory | | |
| inhibitor of activation of NFKB1 as therapy in ulcerative colitis | | cancer | lung | | |
| potential companion drug target, together with EGFR, in EGFR-mutant lung cancers treated with EGFR TKI |
| | | |