2024年12月24日 · AAAS (Aladin WD Repeat Nucleoporin) is a Protein Coding gene. Diseases associated with AAAS include Achalasia-Addisonianism-Alacrima Syndrome and Charcot-Marie-Tooth Disease, Demyelinating, Type 1A. Among its related pathways are Transport of the SLBP independent Mature mRNA and HIV Life Cycle.

The AAAS gene provides instructions for making a protein called ALADIN whose function is not well understood. Within cells, ALADIN is found in the nuclear envelope, the structure that surrounds the nucleus and separates it from the rest of the cell.

Aladin, also known as adracalin, is a nuclear envelope protein that in humans is encoded by the AAAS gene. [5] It is named after the achalasia–addisonianism–alacrima syndrome (triple A syndrome) which occurs when the gene is mutated.

The AAAS gene encodes ALADIN (alacrima achalasia adrenal insufficiency neurologic disorder), a WD-repeat protein that localizes to the nuclear pore. From: Best Practice & Research Clinical Endocrinology & Metabolism, 2006

Triple-A Syndrome (TAS) is a rare autosomal recessive disorder characterized by three cardinal symptoms: alacrimia, achalasia and adrenal insufficiency due to ACTH insensitivity. Various progressive neurological abnormalities and skin changes have …

2009年6月26日 · The AAAS gene encodes a 546-amino acid (aa) protein named alacrima-achalasia-adrenal insufficiency neurologic disorder (ALADIN), a new member of the family of tryptophan aspartic acid (WD) repeat...

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]

Allgrove综合征 (又称3A综合征)是儿童肾上腺皮质功能减退症 (primary adrenal insufficiency，PAI)罕见的遗传性病因，本病以三联征为特征，即吞咽困难的贲门失弛缓症 (achalama)、无泪症 (alacrima)、肾上腺皮质功能不全 (addison)。 部分患儿有进展隐匿的神经系统进行性病变，出现共济失调和智力，运动发育迟缓等。 生命早期最先出现的症状为"哭时无泪"，但临床首次常以肾上腺皮质功能减退或吞咽困难就诊，临床医师对其认识不足，易漏诊误诊。

2016年9月14日 · The AAAS gene provides instructions for making a protein called ALADIN whose function is not well understood. Within cells, ALADIN is found in the nuclear envelope, the structure that surrounds the nucleus and separates it from the rest of the cell.

A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt.