NFKBIA
LOCUS ID4792
GENE_SYMBOLNFKBIA
GENE NAMENFKB inhibitor alpha
SYNONYMNSIKBA, MAD-3, NFKBI
CHROMOSOME14
HOMOLOGENE ID7863
microRNAsNANA
GENE SUMMARY
This gene encodes a member of the NF-kappa-B inhibitor family, which contain multiple ankrin repeat domains. The encoded protein interacts with renal dimers to inhibit NF-kappa-B/REL complexes which are involved in inflammatory responses. The encoded protein moves between the cytoplasm and the nucleus via a nuclear localization signal and CRM1-mediated nuclear export. Mutations in this gene have been found in ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal domint disease. [provided by RefSeq, Aug 2011]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. Since the AA genotype of the NFKBIA gene presents a risk for type 2 diabetes development but not for diabetic nephropathy alone, we believe that the NFkappaB gene polymorphism can influence the pathogenesis of diabetes mellitus and affect its complications.17002901