BC000659
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
55,814 Da
NCBI Official Full Name
Homo sapiens achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A), mRNA
NCBI Official Synonym Full Names
aladin WD repeat nucleoporin
NCBI Official Synonym Symbols
AAA; AAASb; GL003; ALADIN; ADRACALA; ADRACALIN [Similar Products]
NCBI Protein Information
aladin
UniProt Protein Name
Aladin
UniProt Synonym Protein Names
Adracalin
UniProt Synonym Gene Names
UniProt Entry Name
AAAS_HUMAN
NCBI Summary for AAAS
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]
UniProt Comments for AAAS
AAAS: Plays a role in the normal development of the peripheral and central nervous system. Defects in AAAS are the cause of achalasia-addisonianism- alacrima syndrome (AAAS); also known as triple-A syndrome or Allgrove syndrome. AAAS is an autosomal recessive disorder characterized by adreno-corticotropic hormone (ACTH)- resistant adrenal failure, achalasia of the esophageal cardia and alacrima. The syndrome is associated with variable and progressive neurological impairment involving the central, peripheral, and autonomic nervous system. Other features such as palmoplantar hyperkeratosis, short stature, facial dysmorphy and osteoporosis may also be present. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Nuclear envelope; Membrane protein, integral
Chromosomal Location of Human Ortholog: 12q13
Cellular Component: centrosome; cytoplasm; membrane; nuclear envelope; nuclear membrane; nuclear pore; nucleoplasm; nucleus
Biological Process: mitotic nuclear envelope disassembly; mRNA export from nucleus; nucleocytoplasmic transport; protein sumoylation; RNA-mediated gene silencing; tRNA export from nucleus; viral reproduction; viral transcription
Disease: Achalasia-addisonianism-alacrima Syndrome
Research Articles on AAAS
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Pathways associated with AAAS cdna clone
Diseases associated with AAAS cdna clone
Organs/Tissues associated with AAAS cdna clone
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