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Validated All-in-One™ qPCR Primer for AAAS(NM_015665.6) Search again
Product ID:
HQP163635
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
AAA, AAASb, ADRACALA, ADRACALIN, ALADIN, GL003
Gene Description:
aladin WD repeat nucleoporin
Target Gene Accession:
NM_015665.6(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Gene References into function
- a homozygous G -->A transition in exon 9 of the newly identified AAAS gene, resulting in a stop codon (W295X) and predicting a truncated protein with loss of function
- plays a cell type-specific role in regulating nucleocytoplasmic transport and that this function is essential for the proper maintenance andor development of certain tissues; NPC targeting is essential for the function of ALADIN
- myoclonus and generalized digestive dysmotility in triple a syndrome is connected to AAAS gene mutation
- In addition to known ophthalmic manifestations, triple-A syndrome can present with accommodative dysregulation and ocular signs of autonomic dysfunction.
- Further studies have to investigate the role of ALADIN at NPCs and to identify interacting proteins. Functional analyses of ALADIN may permit further understanding of its role for adrenocortical function and neurodevelopment.
- Widespread but not ubiquitous or uniform expression of AAAS mRNA in the developing rat embryo.
- Data do not support a pathogenetic role for common AAAS gene mutations in patients with idiopathic achalasia as seen in Allgrove syndrome.
- novel splice variant AAAS-v2 encodes a 513-amino acid polypeptide, which contains three WD40 domains; AAAS-v2 and AAAS-v1 were ubiquitously detected in human tissues
- 3 subjects with classic AAAS did not have mutations in AAAS gene on both alleles. This supports the notion of genetic heterogeneity for this disorder, although other genetic mechanisms cannot be excluded.
- The mutation of the AAAS gene is a novel mutation and this case adds to the clinical and molecular spectrum of triple A syndrome and may provide a new insight into the functions of AAAS gene.
- With transfection experiments, we analyzed the cellular localization of the wild-type and 17 natural mutant variants (9 missense, 5 nonsense, 3 frameshift mutations) of ALADIN.
- novel homozygous mutation within intron 5 (IVS5+1G-->A) illustrates the heterogenous nature and the intrafamilial phenotypic variability of Allgrove syndrome
- Report a case of adult onset Allgrove syndrome had no mutation in the ALADIN gene on chromosome 12q13.
- The prognosis of patients with triple A syndrome depends on the identification and treatment of adrenal insufficiency.
- AAAS gene analysis demonstrated a homozygous A to G mutation at nucleotide position 122 in exon 1 in DNA from the patient.