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 …

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 …

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 …

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 …

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 …

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 …

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 …

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 …

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 …

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.