AAAS antibody
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Description
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.
Documents del producto
Product specifications
| Category | Primary Antibodies |
| Immunogen Target | achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A) (AAAS) |
| Host | Rabbit |
| Reactivity | Human, Mouse, Rat |
| Recommended Dilution | WB: 1:500 - 1:2000; IHC: 1:50 - 1:200; IF: 1:50 - 1:200 |
| Clonality | polyclonal |
| Conjugation | Unconjugated |
| Isotype | IgG |
| Observed MW | 60 kDa |
| Purity | ≥95% as determined by SDS-PAGE |
| Purification | Immunogen affinity purified |
| Size 1 | 100µg |
| Form | liquid |
| Tested Applications | ELISA, WB, IHC, IF |
| Storage | PBS with 0.02% sodium azide and 50% glycerol pH 7.3, -20℃ for 12 months (Avoid repeated freeze / thaw cycles.) |
| UniProt ID | Q9NRG9 |
| Gene ID | 8086 |
| Alias | AAA,AAASb,GL003,ALADIN,ADRACALA,ADRACALIN |
| Background | Antibody anti-AAAS |
| Status | RUO |
| Note | Mol. Weight 60 kDa |
Descripción
Aladin, also known as adracalin, is a nucleoporin that in humans is encoded by the AAAS gene, located on chromosome 12q13.Aladin is primarily expressed in the adrenal gland, brain, and peripheral nervous system. Mutations in the AAAS gene result in dysfunction or loss of function of the Aladin protein. It iwas linked to a triple A syndrome ( also known as Allgrove Syndrome) which occurs when the gene is mutated. The AAAs gene product is a protein of 60 Kd. Aladin is a component of the nuclear pore complex, to which it is attached by nucleoporin NDC1. Mutant aladin causes selective failure of nuclear protein import and hypersensitivity to oxidative stress
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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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