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2 Shaker Rd Suites
B001/B101
Shirley, MA 01464
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20700 44th Avenue W
Lynnwood, WA 98036
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AAAS / Adracalin
achalasia, adrenocortical insufficiency, alacrimia
AAAS / Adracalin 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.
| Gene Name: | achalasia, adrenocortical insufficiency, alacrimia |
| Synonyms: | AAAS, Aladin, AAASb, ADRACALA, Allgrove, triple-A, AAA, ADRACALIN, GL003 |
| Target Sequences: | NM_015665 NP_056480.1 Q9NRG9 |
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