Identity
HGNC
LOCATION
12q13.13
LOCUSID
ALIAS
AAA,AAASb,ADRACALA,ADRACALIN,ALADIN,GL003
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 8086
MIM: 605378
HGNC: 13666
Ensembl: ENSG00000094914
Variants:
dbSNP: 8086
ClinVar: 8086
TCGA: ENSG00000094914
COSMIC: AAAS
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32700293 | 2021 | Triple A (Allgrove) syndrome due to AAAS gene mutation with a rare association of amyotrophy. | 1 |
| 32700293 | 2021 | Triple A (Allgrove) syndrome due to AAAS gene mutation with a rare association of amyotrophy. | 1 |
| 31071487 | 2019 | Homozygous deletion of the entire AAAS gene in a triple A syndrome patient. | 1 |
| 31071487 | 2019 | Homozygous deletion of the entire AAAS gene in a triple A syndrome patient. | 1 |
| 29237697 | 2018 | Triple-A syndrome: a wide spectrum of adrenal dysfunction. | 11 |
| 29255950 | 2018 | Clinical and genetic characterisation of a series of patients with triple A syndrome. | 8 |
| 29874194 | 2018 | Clinical heterogeneity and molecular profile of triple A syndrome: a study of seven cases. | 8 |
| 30381913 | 2018 | Triple A syndrome presenting as complicated hereditary spastic paraplegia. | 2 |
| 29237697 | 2018 | Triple-A syndrome: a wide spectrum of adrenal dysfunction. | 11 |
| 29255950 | 2018 | Clinical and genetic characterisation of a series of patients with triple A syndrome. | 8 |
| 29874194 | 2018 | Clinical heterogeneity and molecular profile of triple A syndrome: a study of seven cases. | 8 |
| 30381913 | 2018 | Triple A syndrome presenting as complicated hereditary spastic paraplegia. | 2 |
| 27414811 | 2016 | Splicing Defects in the AAAS Gene Leading to both Exon Skipping and Partial Intron Retention in a Tunisian Patient with Allgrove Syndrome. | 2 |
| 27414811 | 2016 | Splicing Defects in the AAAS Gene Leading to both Exon Skipping and Partial Intron Retention in a Tunisian Patient with Allgrove Syndrome. | 2 |
| 25781531 | 2015 | Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty. | 1 |
Citation
Dessen P
AAAS (aladin WD repeat nucleoporin)
Atlas Genet Cytogenet Oncol Haematol. 2010-03-01
Online version: http://atlasgeneticsoncology.org/gene/51360/aaas
