Gene: AAAS

Alternate names for this Gene: AAA|AAASb|ADRACALA|ADRACALIN|ALADIN|GL003

Gene Summary: 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.

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.13

Description of this Gene: aladin WD repeat nucleoporin

Type of Gene: protein-coding

rs121918549 in AAAS gene and Glucocorticoid deficiency with achalasia PMID 12429595 2002 Clinical and genetic characterization of families with triple A (Allgrove) syndrome.

PMID 15666842 2004 To examine the cellular localization of ALADIN mutants causing triple A syndrome, we investigated nine different ALADIN-mutants: 2 nonsense (W84X, Q456X), 2 frameshift (F157fsX171, G397fsX414) and 5 point mutations (Q15K, L25P, H160R, S263P, L381R) by transfection experiments with green fluorescence protein.

PMID 18615337 2008 Triple A syndrome mimicking ALS.

PMID 11159947 2001 Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene.

PMID 16609705 2006 Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome - shedding light on an unexpected splice mutation.

PMID 22538409 2012 Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome.

PMID 11701718 2001 A novel point mutation, 43C-->A(Gln15Lys), in exon 1 of the AAAS gene was identified in the homozygote state in a Canadian AS kindred with a milder AS phenotype.

PMID 21865313 2012 AAA syndrome--adrenal insufficiency, alacrima and achalasia.

PMID 12752575 2003 Triple A syndrome: genotype-phenotype assessment.

rs121918550 in AAAS gene and Multiple congenital anomalies PMID 18628786 2008 Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe.

PMID 26622478 2015 Identification of AAAS gene mutation in Allgrove syndrome: A report of three cases.

PMID 12752575 2003 Triple A syndrome: genotype-phenotype assessment.

PMID 6243664 1980 Glucocorticoid and partial mineralocorticoid deficiency associated with achalasia.

PMID 16098009 2005 Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005.

PMID 1537368 1992 Familial glucocorticoid deficiency with achalasia of the cardia associated with mixed neuropathy, long-tract degeneration and mild dementia.