|SwissProt ID Link
||Plays a role in the normal development of the peripheral and central nervous system.
||Nucleus, nuclear pore complex.
|Involvement in Disease
||Achalasia-addisonianism-alacrima syndrome: An autosomal recessive disorder characterized by adreno-corticotropic hormone
-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. The disease is caused by mutations affecting the gene represented in this entry.
||Widely expressed. Particularly abundant expression is found in cerebellum, corpus callosum, adrenal gland, pituitary gland, gastrointestinal structures and fetal lung.
||Interacts with NDC1, the interaction is required for nuclear pore localization.
||Contains 7 WD repeats.