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Merck

AAAS

achalasia, adrenocortical insufficiency, alacrimia

Synonyms:
AAA, AAASb, ADRACALA, ADRACALIN, ALADIN
Species:
Human AAAS (8086), Mouse Aaas (223921), Rat Aaas (300259), Domestic Rabbit AAAS (100356621), sheep AAAS (101104648), cow AAAS (506561), Horse AAAS (100063811), domestic cat AAAS (101085052), naked mole-rat Aaas (101726045), domestic guinea pig Aaas (100727054) ...More
UniProtKB ID:
Q9NRG9, Q5JB47, Q9NWI6, Q9UG19
Gene ID:
  • Human(8086) Summary: 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]
  • Mouse(223921) achalasia, adrenocortical insufficiency, alacrimia
  • Rat(300259) achalasia, adrenocortical insufficiency, alacrimia
  • Domestic Rabbit(100356621) achalasia, adrenocortical insufficiency, alacrimia
  • sheep(101104648) achalasia, adrenocortical insufficiency, alacrimia
  • cow(506561) achalasia, adrenocortical insufficiency, alacrimia
  • Horse(100063811) achalasia, adrenocortical insufficiency, alacrimia
  • domestic cat(101085052) achalasia, adrenocortical insufficiency, alacrimia
  • naked mole-rat(101726045) achalasia, adrenocortical insufficiency, alacrimia
  • domestic guinea pig(100727054) achalasia, adrenocortical insufficiency, alacrimia
  • dog(607867) achalasia, adrenocortical insufficiency, alacrimia
  • chicken(100859661) achalasia, adrenocortical insufficiency, alacrimia
  • Zebrafish(378454) achalasia, adrenocortical insufficiency, alacrimia

Custom & Knockdown Gene Products

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Antibodies

Product Number
Description
Species Reactivity
Application
SAB1411463
Anti-AAAS antibody produced in rabbit, purified immunoglobulin, buffered aqueous solution,
Species Reactivity
human, mouse
Application
western blot
HPA040086
Anti-AAAS antibody produced in rabbit, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution,
Species Reactivity
human
Application
immunofluorescence
immunohistochemistry
western blot
WH0008086M2
Monoclonal Anti-AAAS antibody produced in mouse, clone 5A1, purified immunoglobulin, buffered aqueous solution,
Species Reactivity
human, mouse, rat
Application
ELISA
immunohistochemistry
western blot

esiRNA

Product Number
Description
Species
EMU018291
MISSION® esiRNA, targeting mouse Aaas,
Species
mouse
EHU020761
MISSION® esiRNA, targeting human AAAS,
Species
human