Ontology highlight
ABSTRACT:
SUBMITTER: Huebner A
PROVIDER: S-EPMC1430267 | biostudies-literature | 2006 Mar
REPOSITORIES: biostudies-literature
Huebner Angela A Mann Philipp P Rohde Elvira E Kaindl Angela M AM Witt Martin M Verkade Paul P Jakubiczka Sibylle S Menschikowski Mario M Stoltenburg-Didinger Gisela G Koehler Katrin K
Molecular and cellular biology 20060301 5
Triple A syndrome is a human autosomal recessive disorder characterized by adrenal insufficiency, achalasia, alacrima, and neurological abnormalities affecting the central, peripheral, and autonomic nervous systems. In humans, this disease is caused by mutations in the AAAS gene, which encodes ALADIN, a protein that belongs to the family of WD-repeat proteins and localizes to nuclear pore complexes. To analyze the function of the gene in the context of the whole organism and in an attempt to obt ...[more]