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AAAS cdna clone

Scan QR to view Datasheet Catalog #    MBS1268007 AAAS cdna clone
Unit / Price
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 Go to:   rightarrow  Product Names   rightarrow Product Info   rightarrow Accession #s   rightarrow Product Desc   rightarrow Diseases/Tissues/Pathways   rightarrow Applications   rightarrow References 
 Product Name   

AAAS, cDNA Clone

 Also Known As   

AAAS cDNA Clone

 Product Gene Name   

AAAS cdna clone

[Similar Products]
 Research Use Only    For Research Use Only. Not for use in diagnostic procedures.
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 Molecular Biology Protocol    Molecular Biology Protocol
 Frequently Asked Questions    Frequently Asked Questions
 Sequence    Please Inquire
 OMIM    231550
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 Vector    Please Inquire
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 ISO Certification    Manufactured in an ISO 9001:2008 Certified Laboratory.
 Other Notes    Small volumes of AAAS cdna clone vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
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NCBI/Uniprot data below describe general gene information for AAAS. It may not necessarily be applicable to this product.
 NCBI GI #    33875710
 NCBI GeneID    8086
 NCBI Accession #    BC000659 [Other Products]
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 UniProt Secondary Accession #    Q5JB47; Q9NWI6; Q9UG19 [Other Products]
 UniProt Related Accession #    Q9NRG9 [Other Products]
 Molecular Weight    55,814 Da
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 NCBI Official Full Name    Homo sapiens achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A), mRNA
 NCBI Official Synonym Full Names    aladin WD repeat nucleoporin
 NCBI Official Symbol    AAAS [Similar Products]
 NCBI Official Synonym Symbols   
AAA; AAASb; GL003; ALADIN; ADRACALA; ADRACALIN
[Similar Products]
 NCBI Protein Information    aladin
 UniProt Protein Name    Aladin
 UniProt Synonym Protein Names   
Adracalin
 Protein Family    Aladin
 UniProt Gene Name    AAAS [Similar Products]
 UniProt Synonym Gene Names    ADRACALA [Similar Products]
 UniProt Entry Name    AAAS_HUMAN
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 NCBI Summary for AAAS    The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
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 UniProt Comments for AAAS    AAAS: Plays a role in the normal development of the peripheral and central nervous system. Defects in AAAS are the cause of achalasia-addisonianism- alacrima syndrome (AAAS); also known as triple-A syndrome or Allgrove syndrome. AAAS is an autosomal recessive disorder characterized by adreno-corticotropic hormone (ACTH)- resistant adrenal failure, achalasia of the esophageal cardia and alacrima. The syndrome is associated with variable and progressive neurological impairment involving the central, peripheral, and autonomic nervous system. Other features such as palmoplantar hyperkeratosis, short stature, facial dysmorphy and osteoporosis may also be present. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Nuclear envelope; Membrane protein, integral

Chromosomal Location of Human Ortholog: 12q13

Cellular Component: centrosome; cytoplasm; membrane; nuclear envelope; nuclear membrane; nuclear pore; nucleoplasm; nucleus

Biological Process: mitotic nuclear envelope disassembly; mRNA export from nucleus; nucleocytoplasmic transport; protein sumoylation; RNA-mediated gene silencing; tRNA export from nucleus; viral reproduction; viral transcription

Disease: Achalasia-addisonianism-alacrima Syndrome
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 Research Articles on AAAS    1. Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty.
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 Precautions    All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
 Disclaimer    While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
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Pathways associated with AAAS cdna cloneDiseases associated with AAAS cdna clone
 Products by Pathway  Pathway Diagram
 Antiviral Mechanism By IFN-stimulated Genes Pathway antibodies  Antiviral Mechanism By IFN-stimulated Genes Pathway Diagram
 Cytokine Signaling In Immune System Pathway antibodies  Cytokine Signaling In Immune System Pathway Diagram
 Disease Pathway antibodies  Disease Pathway Diagram
 Export Of Viral Ribonucleoproteins From Nucleus Pathway antibodies  Export Of Viral Ribonucleoproteins From Nucleus Pathway Diagram
 Gene Expression Pathway antibodies  Gene Expression Pathway Diagram
 Glucose Transport Pathway antibodies  Glucose Transport Pathway Diagram
 HIV Infection Pathway antibodies  HIV Infection Pathway Diagram
 HIV Life Cycle Pathway antibodies  HIV Life Cycle Pathway Diagram
 Hexose Transport Pathway antibodies  Hexose Transport Pathway Diagram
 Host Interactions Of HIV Factors Pathway antibodies  Host Interactions Of HIV Factors Pathway Diagram
 Disease Name  Pubmed Publications
 Kidney Diseases Antibodies  >40 publications with AAAS and Kidney Diseases
 Congenital Abnormalities Antibodies  >35 publications with AAAS and Congenital Abnormalities
 Necrosis Antibodies  >32 publications with AAAS and Necrosis
 Abnormalities, Multiple Antibodies  >15 publications with AAAS and Abnormalities, Multiple
 Liver Diseases Antibodies  >14 publications with AAAS and Liver Diseases
 Achalasia Addisonianism Alacrimia syndrome Antibodies  >13 publications with AAAS and Achalasia Addisonianism Alacrimia syndrome
 Weight Loss Antibodies  >6 publications with AAAS and Weight Loss
 Bone Diseases, Developmental Antibodies  >4 publications with AAAS and Bone Diseases, Developmental
 Musculoskeletal Abnormalities Antibodies  >4 publications with AAAS and Musculoskeletal Abnormalities
 Carcinoma, Hepatocellular Antibodies  >3 publications with AAAS and Carcinoma, Hepatocellular
Organs/Tissues associated with AAAS cdna clone
 Organ/Tissue Name  Pubmed Publications
 Vascular Antibodies  >1034 publications with AAAS and Vascular
 Blood Antibodies  >686 publications with AAAS and Blood
 Muscle Antibodies  >121 publications with AAAS and Muscle
 Heart Antibodies  >84 publications with AAAS and Heart
 Nerve Antibodies  >74 publications with AAAS and Nerve
 Kidney Antibodies  >45 publications with AAAS and Kidney
 Skin Antibodies  >38 publications with AAAS and Skin
 Connective Tissue Antibodies  >30 publications with AAAS and Connective Tissue
 Eye Antibodies  >29 publications with AAAS and Eye
 Bone Antibodies  >25 publications with AAAS and Bone
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