Aladin (AAAS) Antibody

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Description
AAAS Antibody is a Rabbit Polyclonal antibody against AAAS. 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 | Aladin (AAAS) |
Host | Rabbit |
Reactivity | Human |
Recommended Dilution | ELISA: 1 µg/ml, WB: 1/500 - 1/2000. Optimal dilutions/concentrations should be determined by the end user. |
Clonality | Polyclonal |
Conjugation | Unconjugated |
Isotype | IgG |
Purification | Purified by affinity chromatography. |
Size 1 | 20 µl |
Size 2 | 100 µl |
Size 3 | 2 × 100 µl |
Form | Liquid |
Tested Applications | ELISA, WB |
Buffer | PBS, pH 7.3, containing 0.02% sodium azide, 50% glycerol. |
Availability | Shipped within 5-10 working days. |
Storage | Aliquot and store at -20°C. Avoid repeated freeze/thaw cycles. |
Dry Ice | No |
UniProt ID | Q9NRG9 |
Gene ID | 8086 |
NCBI Accession | NP_056480.1 |
Alias | AAA,AAASb,GL003,ALADIN,ADRACALA,ADRACALIN |
Background | Antibody anti-AAAS |
Status | RUO |
Note | Concentration: > 0.2 mg/ml - |
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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AAAS Antibody is a Rabbit Polyclonal antibody against AAAS. 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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