Recombinant Human Aladin (AAAS)

Uniprot Id

Q9NRG9

Target Species

Human

Target Name

AAAS

Target Full Name

Aladin

Target Function

Plays a role in the normal development of the peripheral and central nervous system. 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.

Target Involvement

Achalasia-addisonianism-alacrima syndrome (AAAS)

Target Subcellular Location

Nucleus, nuclear pore complex. Cytoplasm, cytoskeleton, spindle pole. Nucleus envelope.

Target Tissue Specificity

Widely expressed. Particularly abundant in cerebellum, corpus callosum, adrenal gland, pituitary gland, gastrointestinal structures and fetal lung.

Target Synonyms

AAAS; ADRACALA; GL003Aladin; Adracalin

Target Background

The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene.