Ontology highlight
ABSTRACT:
SUBMITTER: Uchida D
PROVIDER: S-EPMC2211764 | biostudies-literature | 2004 Jan
REPOSITORIES: biostudies-literature
The Journal of experimental medicine 20040101 2
Autoimmune regulator (AIRE) gene mutation is responsible for the development of autoimmune-polyendocrinopathy-candidiasis ectodermal dystrophy, an organ-specific autoimmune disease with monogenic autosomal recessive inheritance. AIRE is predominantly expressed in medullary epithelial cells of the thymus and is considered to play important roles in the establishment of self-tolerance. AIRE contains two plant homeodomain (PHD) domains, and the novel role of PHD as an E3 ubiquitin (Ub) ligase has j ...[more]