DISEASES

Disease-gene associations mined from literature

Literature associating NFKBIA and ectodermal dysplasia

NFKBIA [ENSP00000216797]

Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha; Inhibits the activity of dimeric NF-kappa-B/REL complexes by trapping REL dimers in the cytoplasm through masking of their nuclear localization signals. On cellular stimulation by immune and proinflammatory responses, becomes phosphorylated promoting ubiquitination and degradation, enabling the dimeric RELA to translocate to the nucleus and activate transcription.

Synonyms:  NFKBIA,  G3V286,  G3V2A2,  G3V3I4,  G3V3K1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM