AAAS (gene)

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Achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)
Identifiers
Symbols AAAS ; AAA; AAASb; ADRACALA; ADRACALIN; DKFZp586G1624; GL003
External IDs OMIM: 605378 MGI2443767 HomoloGene9232
RNA expression pattern
PBB GE AAAS 218075 at tn.png
More reference expression data
Orthologs

| | bgcolor="#C3FDB8" | Human | bgcolor="#C3FDB8" | Mouse |-

    | bgcolor="#C3FDB8" | Entrez 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| 8086
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| 223921

|-

     | bgcolor="#C3FDB8" | Ensembl
     | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| ENSG00000094914
     | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| ENSMUSG00000036678

|-

    | bgcolor="#C3FDB8" | Uniprot
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| Q9NRG9
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| Q3TEP0

|-

    | bgcolor="#C3FDB8" | Refseq
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" | NM_015665 (mRNA)
NP_056480 (protein)
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" |NM_153416 (mRNA)
NP_700465 (protein)

|-

    | bgcolor="#C3FDB8" | Location
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"|  Chr 12: 51.99 - 52 Mb 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"|  Chr 15: 102.17 -  102.18 Mb 

|-

|-

    | bgcolor="#C3FDB8" | Pubmed search 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| [1]
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| [2]
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

Achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A), also known as AAAS, is a human gene responsible for Triple A syndrome (also known as Allgrove Syndrome).[1]


References

  1. "Entrez Gene: AAAS achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)".

Further reading

  • Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. PMID 8125298.
  • Weber A, Wienker TF, Jung M; et al. (1997). "Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster". Hum. Mol. Genet. 5 (12): 2061–6. PMID 8968764.
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K; et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. PMID 9373149.
  • Tullio-Pelet A, Salomon R, Hadj-Rabia S; et al. (2000). "Mutant WD-repeat protein in triple-A syndrome". Nat. Genet. 26 (3): 332–5. doi:10.1038/81642. PMID 11062474.
  • Handschug K, Sperling S, Yoon SJ; et al. (2001). "Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene". Hum. Mol. Genet. 10 (3): 283–90. PMID 11159947.
  • Sandrini F, Farmakidis C, Kirschner LS; et al. (2001). "Spectrum of mutations of the AAAS gene in Allgrove syndrome: lack of mutations in six kindreds with isolated resistance to corticotropin". J. Clin. Endocrinol. Metab. 86 (11): 5433–7. PMID 11701718.
  • Schmittmann-Ohters K, Huebner A, Richter-Unruh A, Hauffa BP (2002). "Clinical and novel molecular findings in a 6.8-year-old Turkish boy with triple A syndrome". Horm. Res. 56 (1–2): 67–72. PMID 11815731.
  • Goizet C, Catargi B, Tison F; et al. (2002). "Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation". Neurology. 58 (6): 962–5. PMID 11914417.
  • Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
  • Cronshaw JM, Matunis MJ (2003). "The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome". Proc. Natl. Acad. Sci. U.S.A. 100 (10): 5823–7. doi:10.1073/pnas.1031047100. PMID 12730363.
  • Prpic I, Huebner A, Persic M; et al. (2003). "Triple A syndrome: genotype-phenotype assessment". Clin. Genet. 63 (5): 415–7. PMID 12752575.
  • Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Roubergue A, Apartis E, Vidailhet M; et al. (2004). "Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation". Mov. Disord. 19 (3): 344–6. doi:10.1002/mds.10660. PMID 15022193.
  • Brooks BP, Kleta R, Caruso RC; et al. (2004). "Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report". BMC ophthalmology. 4: 7. doi:10.1186/1471-2415-4-7. PMID 15217518.
  • Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
  • Huebner A, Kaindl AM, Knobeloch KP; et al. (2005). "The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex". Endocr. Res. 30 (4): 891–9. PMID 15666842.
  • Storr HL, Clark AJ, Priestley JV, Michael GJ (2005). "Identification of the sites of expression of triple A syndrome mRNA in the rat using in situ hybridisation". Neuroscience. 131 (1): 113–23. doi:10.1016/j.neuroscience.2004.10.029. PMID 15680696.
  • Di Nardo G, Tullio-Pelet A, Annese V; et al. (2005). "Idiopathic achalasia is not allelic to alacrima achalasia adrenal insufficiency syndrome at the ALADIN locus". Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver. 37 (5): 312–5. doi:10.1016/j.dld.2004.11.006. PMID 15843079.
  • Li X, Ji C, Gu J; et al. (2005). "Molecular cloning and characterization of AAAS-V2, a novel splice variant of human AAAS". Mol. Biol. Rep. 32 (2): 127–31. PMID 16022285.
  • Brooks BP, Kleta R, Stuart C; et al. (2005). "Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005". Clin. Genet. 68 (3): 215–21. doi:10.1111/j.1399-0004.2005.00482.x. PMID 16098009.

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