AAAS Antibody (monoclonal) (M02)Purified Mouse Monoclonal Antibody (Mab)

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.

REFERENCES

Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome. Palka C, et al. Clin Genet, 2010 Mar. PMID 20447142.Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism. Storr HL, et al. Mol Endocrinol, 2009 Dec. PMID 19855093.The nuclear pore complex protein ALADIN is anchored via NDC1 but not via POM121 and GP210 in the nuclear envelope. Kind B, et al. Biochem Biophys Res Commun, 2009 Dec 11. PMID 19782045.The transmembrane nucleoporin NDC1 is required for targeting of ALADIN to nuclear pore complexes. Yamazumi Y, et al. Biochem Biophys Res Commun, 2009 Nov 6. PMID 19703420.Tissue-specific expression and subcellular localization of ALADIN, the absence of which causes human triple A syndrome. Cho AR, et al. Exp Mol Med, 2009 Jun 30. PMID 19322026.