Mouse anti-Human sapiens (Human) AAAS Monoclonal Antibody

Function

Plays a role in the normal development of the peripheral and central nervous system (PubMed:11062474, PubMed:11159947, PubMed:16022285). 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 (PubMed:26246606)

Subcellular Location

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

Disease Association

Achalasia-addisonianism-alacrima syndrome (AAAS) : 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. [The disease is caused by variants affecting the gene represented in this entry]

Tissue Specificity

Widely expressed (PubMed:11159947, PubMed:16022285). Particularly abundant in cerebellum, corpus callosum, adrenal gland, pituitary gland, gastrointestinal structures and fetal lung (PubMed:11159947)

Subunit

Interacts with NDC1, the interaction is required for nuclear pore localization (PubMed:19782045). Interacts with the inactive form aurora kinase AURKA (PubMed:26246606). Interacts with PGRMC2 (PubMed:27754849)

• Tullio-Pelet A. et al. Mutant WD-repeat protein in triple-A syndrome. — Nat. Genet. (2000)
• Handschug K. et al. Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. — Hum. Mol. Genet. (2001)
• Li X. et al. Molecular cloning and characterization of AAAS-V2, a novel splice variant of human AAAS. — Mol. Biol. Rep. (2005)
• Li Y. et al. A novel gene expressed in human liver non-tumor tissues. (JAN-)
• Ota T. et al. Complete sequencing and characterization of 21,243 full-length human cDNAs. — Nat. Genet. (2004)
• Kalnine N. et al. Cloning of human full-length CDSs in BD Creator(TM) system donor vector. (MAY-)
• Scherer S.E. et al. The finished DNA sequence of human chromosome 12. — Nature (2006)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)