中文名称:AAAS 抗原(重组蛋白)
英文名称:AAAS Antigen (Recombinant Protein)
别 名:achalasia, adrenocortical insufficiency, alacrimia; AAA; AAASb; GL003; ALADIN; ADRACALA; ADRACALIN
储 存:冷冻(-20℃)
相关类别:抗原
概 述:
Fusion protein corresponding to C terminal 250 amino acids of human AAAS
技术规格:
Full name:
achalasia, adrenocortical insufficiency, alacrimia
Synonyms:
AAA; AAASb; GL003; ALADIN; ADRACALA; ADRACALIN
Swissprot:
Q9NRG9
Gene Accession:
BC000659
Purity:
>85%, as determined by Coomassie blue stained SDS-PAGE
Expression system:
Escherichia coli
Tags:
His tag C-Terminus, GST tag N-Terminus
Background:
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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