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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| AAAS-20-RE | 20 (40 μL) | 200 μL |  |
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| AAAS-20-OR | 20 (40 μL) | 200 μL |  |
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| AAAS-20-GO | 20 (40 μL) | 200 μL |  |
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| AAAS-20-GR | 20 (40 μL) | 200 μL |  |
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| AAAS-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : AAAS
Gene Name : Aladin WD repeat nucleoporin
Chromosome : CHR 12: 533,216,27-533,074,55
Locus : 12q13.13
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