| NFKBIA |
| LOCUS ID | 4792 | ||||||||||
| GENE_SYMBOL | NFKBIA | ||||||||||
| GENE NAME | NFKB inhibitor alpha | ||||||||||
| SYNONYMNS | IKBA, MAD-3, NFKBI | ||||||||||
| CHROMOSOME | 14 | ||||||||||
| HOMOLOGENE ID | 7863 |
| microRNAs | NA | NA |
| GENE SUMMARY |
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| 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. |
| OBSERVATIONS |
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| Complication | Evidence | PMID |
| Nephropathy | 1. 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 |