基因名:
AAAS
产品别名:
AAA; AAASb; ADRACALA; ADRACALIN; ALADIN; GL003; AAAS; aladin WD repeat nucleoporin; aladin WD repeat nucleoporin; aladin; Allgrove, triple-A; achalasia, adrenocortical insufficiency, alacrimia; Allgrove综合征相关蛋白;
背景信息:
Aladin (Adracalin) belongs to a family of WD repeat-containing proteins. These proteins have a wide variety of functions, including signal transduction regulation, RNA processing and transcription. Aladin plays a role in peripheral and central nervous system development. It is widely expressed, with the highest expression seen in pituitary gland, corpus callosum, cerebellum, adrenal gland and gastrointestinal structures. Defects in Aladin cause the autosomal recessive disorder achalasia-addisonianism-alacrima (triple A) syndrome. Triple A syndrome is characterized by achalasia, alacrima and adrenocortico-tropin-resistant adrenal insufficiency. Robust expression in neural systems associated with cognitive, motor and sensory functions is consistent with the myriad of symptoms experienced by patients with triple A syndrome.