AAA; AAASb; ADRACALA; ADRACALIN; ALADIN; DKFZp586G1624; GL003

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

IgG

Rabbit

Antigen affinity purification

Store at -20 degree C. Avoid freeze / thaw cycles

Manufactured in an ISO 9001:2015 Certified Laboratory.

Small volumes of anti-AAAS antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

ELISA (EIA), Western Blot (WB), Immunohistochemistry (IHC), Immunofluorescence (IF)

WB: 1:500-1:5000
IHC: 1:20-1:200
IF: 1:20-1:200

55,814 Da

achalasia, adrenocortical insufficiency, alacrimia

aladin; Allgrove, triple-A

Aladin

ADRACALA??[Similar Products]

AAAS_HUMAN

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. [provided by RefSeq, Mar 2010]

AAAS: Plays a role in the normal development of the peripheral and central nervous system. Defects in AAAS are the cause of achalasia-addisonianism- alacrima syndrome (AAAS); also known as triple-A syndrome or Allgrove syndrome. AAAS is an autosomal recessive disorder characterized by adreno-corticotropic hormone (ACTH)- resistant adrenal failure, achalasia of the esophageal cardia and alacrima. The syndrome is associated with variable and progressive neurological impairment involving the central, peripheral, and autonomic nervous system. Other features such as palmoplantar hyperkeratosis, short stature, facial dysmorphy and osteoporosis may also be present. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Nuclear envelope; Membrane protein, integral

Chromosomal Location of Human Ortholog: 12q13

Cellular Component: nucleoplasm; centrosome; nuclear membrane; membrane; cytoplasm; nuclear pore; nuclear envelope; nucleus

Biological Process: mRNA transport; viral reproduction; cytokine and chemokine mediated signaling pathway; mitotic nuclear envelope disassembly; nucleocytoplasmic transport; pathogenesis; glucose transport; viral infectious cycle; learning; protein transport; fertilization; regulation of nucleocytoplasmic transport; hexose transport; carbohydrate metabolic process; viral transcription; gene expression; mitotic cell cycle; transmembrane transport

Disease: Achalasia-addisonianism-alacrima Syndrome

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