AAAS (gene) Information & AAAS (gene) Links at HealthHaven.com

Achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)
Identifiers
Symbols	AAAS; AAA; AAASb; ADRACALA; ADRACALIN; DKFZp586G1624; GL003
External IDs	OMIM: 605378 MGI: 2443767 HomoloGene: 9232
Gene ontology
Molecular function	• molecular_function;
Cellular component	• nuclear pore;
Biological process	• regulation of nucleocytoplasmic transport;
RNA expression pattern
	More reference expression data
Orthologs
NP_056480 (protein)	NP_700465 (protein)

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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]

[edit] References

^ "Entrez Gene: AAAS achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8086.

[edit] 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. doi:10.1016/0378-1119(94)90802-8. 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. doi:10.1093/hmg/5.12.2061. 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. doi:10.1016/S0378-1119(97)00411-3. 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. doi:10.1093/hmg/10.3.283. 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. doi:10.1210/jc.86.11.5433. 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. doi:10.1159/000048093. 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. doi:10.1034/j.1399-0004.2003.00070.x. 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. doi:10.1081/ERC-200044138. 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. doi:10.1007/s11033-004-6939-9. 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.

This article on a gene on chromosome 12 is a stub. You can help Wikipedia by expanding it.

[entrez-0] "Entrez Gene: AAAS achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8086.

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