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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: achalasia, adrenocortical insufficiency, alacrimia; Adracalin; Aladin; Allgrove, triple-A
基因别名: AAA; AAAS; AAASb; ADRACALA; ADRACALIN; ALADIN; GL003
UniProt ID: (Human) Q9NRG9
Entrez Gene ID: (Human) 8086