AAAS wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human AAAS wild-type allele is located in the vicinity of 12q13.13 and is approximately 17 kb in length. This allele, which encodes aladin protein, is involved in peripheral and central nervous system development and mitotic spindle formation. Mutations in the gene are associated with achalasia-addisonianism-alacrima syndrome (Allgrove or triple-A syndrome).

**Synonyms:** - AAA - AAASb - ADRACALA - ADRACALIN - ALADIN - Achalasia, Adrenocortical Insufficiency, Alacrimia (Allgrove, Triple-A) Gene - Achalasia, Adrenocortical Insufficiency, Alacrimia Gene - Aladin WD Repeat Nucleoporin wt Allele - Allgrove, Triple-A Gene - GL003