Disease:Defects in AAAS are the cause of achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]; also known as triple-A syndrome or Allgrove syndrome. AAAS is an autosomal recessive disorder characterized by adreno-corticotropic hormone (ACTH)-resistant adrenal failure, achalasia of the esophageal cardia and alacrima. The syndrome is associated with variable and progressive neurological impairment involving the central, peripheral, and autonomic nervous system. Other features such as palmoplantar hyperkeratosis, short stature, facial dysmorphy and osteoporosis may also be present.,Function:Plays a role in the normal development of the peripheral and central nervous system.,similarity:Contains 4 WD repeats.,tissue specificity:Widely expressed. Particularly abundant expression is found in cerebellum, corpus callosum, adrenal gland, pituary gland, gatsrointestinal structures and fetal lung.,
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