AAAS

Adracalin (AAAS) is expressed in both neuroendocrine and cerebral structures and may function in the normal development of the peripheral and central nervous system. It localizes to nuclear pore complexes (NPCs), large multiprotein assemblies that are the

Full Name

achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)

Function

Plays a role in the normal development of the peripheral and central nervous system (PubMed:11062474. Required for the correct localization of aurora kinase AURKA and the microtubule minus end-binding protein NUMA1 as well as a subset of AURKA targets which ensures proper spindle formation and timely chromosome alignment.

Biological Process

Fertilization
Intracellular transport of virus
Learning
Microtubule bundle formation
Mitotic spindle assembly
mRNA export from nucleus
Nucleocytoplasmic transport
Protein sumoylation
Regulation of cellular response to heat
Regulation of gene silencing by miRNA
Regulation of glycolytic process
Regulation of nucleocytoplasmic transport
tRNA export from nucleus
Viral life cycle
Viral process
Viral transcription

Cellular Location

Nuclear pore complex; Nucleus envelope; Spindle pole. In metaphase cells localizes within the spindle with some accumulation around spindle poles, with the highest concentration between the centrosome and metaphase plate. The localization to the spindle is microtubule-mediated.

Involvement in disease

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.