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.

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Flow cytometric analysis of AAAS expression in HAP-1 cells using AAAS antibody . Green, isotype control; red, AAAS.

Immunocytochemical staining of HAP1 cells with AAAS antibody . Nuclei were stained blue with DAPI; AAAS stained magenta with Alexa Fluor® 647. Images were taken using Leica stellaris 5. Protein abundance based on laser Intensity and smart gain: Low. Scale bar, 20 μm.

Western blotting analysis using AAAS antibody . Total cell lysates (30 μg) from various cell lines were loaded and separated by SDS-PAGE. The blot was incubated with AAAS antibody and HRP-conjugated goat anti-mouse secondary antibody respectively. Image was developed using FeQ™ ECL Substrate Kit .

Western blotting analysis using aladin AAAS antibody . AAAS expression in wild type (WT) and AAAS shRNA knockdown (KD) HeLa cells with 20 μg of total cell lysates. Hsp90 α serves as a loading control. The blot was incubated with AAAS antibody and HRP-conjugated goat anti-mouse secondary antibody respectively. Image was developed using NaQ™ ECL Substrate Kit .

Validation of AAAS knockdown using flow cytometry. Wild-type(WT, Blue) and knockdown(KD, Green) HeLa cells were stained with AAAS antibody and analyzed using BD flow cytometer.

Immunocytochemical staining of HeLa cells using AAAS antibody , Top panel: wild-type (WT); Bottom panal: AAAS shRNA knockdown (KD). Nuclei were stained blue with DAPI; AAAS was stained magenta with Alexa Fluor® 647. Scale bar, 20 μm.

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