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:
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
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