Entrez Gene ID | 4792 |
---|---|
Official Gene Symbol | NFKBIA (GeneCards) |
Full name | NFKB inhibitor alpha |
Location | 14q13.2 |
Other ids | Vega : OTTHUMG00000140220 MIM : 164008 HGNC : HGNC:7797 Ensembl : ENSG00000100906 |
Other names | IKBA, MAD-3, NFKBI |
Summary | This gene encodes a member of the NF-kappa-B inhibitor family, which contain multiple ankrin repeat domains. The encoded protein interacts with REL 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 dominant disease. [provided by RefSeq, Aug 2011] |
Found 4 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
18194 | 4792 | NFKBIA | 14 | 35889569 | 35889569 | Asymptomatic | HiSeq X Ten |
18195 | 4792 | NFKBIA | 14 | 35889685 | 35889685 | Asymptomatic | HiSeq X Ten |
18626 | 4792 | NFKBIA | 14 | 35941819 | 35941819 | Cockayne syndrome | HiSeq X Ten |
18726 | 4792 | NFKBIA | 14 | 35883258 | 35883258 | Xeroderma Pigmentosum | HiSeq X Ten |