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Open Access Articles- Top Results for AAAS (gene)

AAAS (gene)

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Identifiers
SymbolsAAAS ; AAA; AAASb; ADRACALA; ADRACALIN; ALADIN
External IDsOMIM605378 MGI2443767 HomoloGene9232 GeneCards: AAAS Gene
RNA expression pattern
File:PBB GE AAAS 218075 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez8086223921
EnsemblENSG00000094914ENSMUSG00000036678
UniProtQ9NRG9P58742
RefSeq (mRNA)NM_001173466NM_153416
RefSeq (protein)NP_001166937NP_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

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

Clinical significance

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

References

  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. PMID 11062474. doi:10.1038/81642. 
  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. PMID 19782045. doi:10.1016/j.bbrc.2009.09.080. 
  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". Experimental & Molecular Medicine 41 (6): 381–6. PMC 2705858. PMID 19322026. doi:10.3858/emm.2009.41.6.043. 
  4. ^ "Entrez Gene: AAAS achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)". 

Further reading

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External links




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