AAAS (gene)

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Achalasia, adrenocortical insufficiency, alacrimia
Identifiers
Symbols AAAS ; AAA; AAASb; ADRACALA; ADRACALIN; ALADIN
External IDs OMIM605378 MGI2443767 HomoloGene9232 GeneCards: AAAS Gene
RNA expression pattern
PBB GE AAAS 218075 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 8086 223921
Ensembl ENSG00000094914 ENSMUSG00000036678
UniProt Q9NRG9 P58742
RefSeq (mRNA) NM_001173466 NM_153416
RefSeq (protein) NP_001166937 NP_700465
Location (UCSC) Chr 12:
53.7 – 53.72 Mb
Chr 15:
102.34 – 102.35 Mb
PubMed search [1] [2]

Aladin also known as adracalin is a protein that in humans is encoded by the AAAS gene [achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)].[1]

Function[edit]

Aladin is a component of the nuclear pore complex.[2][3]

Clinical significance[edit]

Mutations in the AAAS gene are responsible for Triple A syndrome (also known as Allgrove Syndrome).[4]

References[edit]

  1. ^ Tullio-Pelet A, Salomon R, Hadj-Rabia S, Mugnier C, de Laet MH, Chaouachi B, Bakiri F, Brottier P, Cattolico L, Penet C, Bégeot M, Naville D, Nicolino M, Chaussain JL, Weissenbach J, Munnich A, Lyonnet S (November 2000). "Mutant WD-repeat protein in triple-A syndrome". Nat. Genet. 26 (3): 332–5. doi:10.1038/81642. PMID 11062474. 
  2. ^ Kind B, Koehler K, Lorenz M, Huebner A (December 2009). "The nuclear pore complex protein ALADIN is anchored via NDC1 but not via POM121 and GP210 in the nuclear envelope". Biochem. Biophys. Res. Commun. 390 (2): 205–10. doi:10.1016/j.bbrc.2009.09.080. PMID 19782045. 
  3. ^ Cho AR, Yang KJ, Bae Y, Bahk YY, Kim E, Lee H, Kim JK, Park W, Rhim H, Choi SY, Imanaka T, Moon S, Yoon J, Yoon SK (June 2009). "Tissue-specific expression and subcellular localization of ALADIN, the absence of which causes human triple A syndrome". Exp. Mol. Med. 41 (6): 381–6. doi:10.3858/emm.2009.41.6.043. PMC 2705858. PMID 19322026. 
  4. ^ "Entrez Gene: AAAS achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)". 

Further reading[edit]

External links[edit]