Achalasia, Adrenocortical Insufficiency, Alacrimia (AAAS)

AAAS is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS).Two transcript variants encoding different isoforms have been found for this gene. AAAS, encoding a 547-amino acid protein, called aladin, that was mutant in affected individuals. Aladin (for ) belongs to the WD-repeat family of regulatory proteins, indicating a new disease mechanism involved in the triple-A syndrome. The expression of the gene in both neuroendocrine and cerebral structures pointed to a role in the normal development of the peripheral and central nervous systems.