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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