NFKBIA
Primary Info
Mutation
Mouse studies
DNA sequencing


mRNA IDs Primary Information
NM_020529.1 Gene Symbol NFKBIA
Protein Name Nuclear factor of kappa light polypeptide gene enhancer in b-cells inhibitor, alpha
Alternate Names IKBA, MAD-3, NFKBI
Gene Locus 14q13

External links
IDR HPRD OMIM Entrez Gene NetPath Reactome PDB HGNC Ensembl Swiss-Prot RefDIC
121 01235 164008 4792 NetPath_M4792 4792 1IKN
1NFI
7797 ENSG00000100906 P25963 NFKBIA

Disease name Characteristic / Associated features Category inheritance type
Autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency Anhidrosis; hypohidrosis; dry skin; sparse scalp hair; conical teeth; frontal bossing; saddle nose; hypodontia; recurrent respiratory infections; gastrointestinal infections; lack of sweat glands; heat intolerance; chronic mucocutaneous candidiasis; light colored hair; sparse hair; recurrent infections; reduced immunoglobulin levels; defective production of NFKB1-dependent cytokines; immunodeficiency Defects in Innate Immunity Autosomal dominant