Searchable abstracts of presentations at key conferences in endocrinology

ea0034oc3.3 | Steroids | SFEBES2014

The 21-hydroxylase pseudogene may have a role in induction of tolerance to steroidogenic machinery

Mitchell Anna Louise , Bronstad Ingeborg , Wolff Anette Boe , Narravula Alekhya , Skinningsrud Beate , Husebye Eystein S , Pearce Simon H S

The 21-hydroxylase (21OH) gene, CYP21A2, encodes the 21OH steroidogenic enzyme which is the primary autoantigen in autoimmune AddisonÂ’s disease (AAD). It is located on chromosome 6p21, in a copy number repeat termed RCCX, adjacent to the 21OH pseudogene (CYP21A1P). CYP21A1P is highly homologous to CYP21A2 but contains an 8 bp deletion in exon 3 (707-714delGAGACTAC) which results in a frameshift. The predicted protein product is...