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Anti-ALADIN/AAAS Antibody Picoband® Biotin Conjugated

Product Specifications

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.

Synonyms

AAAS; ADRACALA; GL003; Aladin; Adracalin

Gene Name

AAAS

Gene ID

8086

UniProt

Q9NRG9

Host

Rabbit

Reactivity

Human, Mouse, Rat

Cross Reactivity

No cross-reactivity with other proteins

Immunogen

E.coli-derived human ALADIN/AAAS recombinant protein (Position: R13-K466) . Human ALADIN/AAAS shares 94.3% amino acid (aa) sequence identity with mouse ALADIN/AAAS.

Clonality

Polyclonal

Applications

WB, IHC, ELISA

Purification

Immunogen affinity purified.

Form

Liquid

References & Citations

1.Bitetto, G., Ronchi, D., Bonato, S., Pittaro, A., Compagnoni, G. M., Bordoni, A., Salani, S., Frattini, E., Lopez, G., Cribiu, F. M., Corti, S., Comi, G. P., Bresolin, N., Di Fonzo, A. Loss of the nucleoporin aladin in central nervous system and fibroblasts of Allgrove syndrome. Hum. Molec. Genet. 28: 3921-3927, 2019. 2. Chang, A. J., Kline, M. M., Currie, Y., Perez, M. O., Hartiala, J., Wijesuriya, H., Buchanan, T. A., Watanabe, R. M., Allayee, H. Allgrove syndrome in a Mexican American family is caused by an ancestral mutation derived from North Africa. (Letter) Clin. Genet. 73: 385-387, 2008. 3. Cronshaw, J. M., Matunis, M. J. The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome. Proc. Nat. Acad. Sci. 100: 5823-5827, 2003.

Storage Conditions

At -20 ̊C for one year from date of receipt. Avoid repeated freezing and thawing.

Calculated Molecular Weight

60 kDa

Gene Name Synonym

Aladin WD repeat nucleoporin

Protein Name

Aladin

Isotype

Rabbit IgG

Contents

Each vial contains 50% glycerol, 0.9% NaCl, 0.2% Na2HPO4, 0.02% NaN3.

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