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AAAS cdna clone

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Catalog # MBS1268007
Unit / Price
  0.01 mg Plasmid + 0.2 mL Glycerol-Stock  /  $285 +1 FREE 8GB USB
AAAS cdna clone
Product Name

AAAS, cDNA Clone

Full Product Name

AAAS cDNA Clone

Product Gene Name
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence
atgtgctctc tggggttgtt ccctcctcca ccgcctcggg gtcaagtcac cctatatgag cacaataacg agctggtgac gggcagtagc tatgagagcc cgccccccga cttccggggc cagtggatca atcttcctgt cctacaactg acaaaggatc ccctaaagac ccctggaagg ctggaccatg gcacaagaac tgccttcatc catcaccggg agcaagtgtg gaagagatgc atcaacattt ggcgtgatgt gggccttttt ggggtgctaa atgaaattgc aaactcagaa gaagaggtgt ttgagtgggt gaagacggca tccggctggg ccctggcact ctgtcgatgg gcctcttccc tccatgggtc cctgttcccc catctgtctc tcaggagcga agatctgatc gctgaatttg cccaagtcac aaattggtcc agctgctgct tgcgtgtctt tgcatggcac ccccacacca acaagtttgc agtggccctg ctagatgact cagtccgtgt gtataatgcc agcagcacca tagtcccctc cctgaagcac cggctgcagc gaaatgtggc gtctctggcc tggaagcccc ttagtgcctc tgtcttggct gtggcctgcc agagctgcat tcttatctgg accctggacc ctacctcctt gtctacccga ccctcttctg gctgtgccca agtgctgtct caccctgggc atacacctgt taccagcttg gcctgggccc ccagtggggg gcggctgctc tcagcttcac ccgtggatgc tgctatccgg gtatgggatg tctcaacaga gacctgtgtc ccccttccct ggtttcgagg aggtggggtg accaacctgc tctggtcccc agacggcagc aaaatcctgg ctaccactcc ttcagctgtc tttcgagtct gggaggccca gatgtggact tgtgagaggt ggcctactct atcagggcgc tgtcagactg gctgctggag cccagatggc agccgactgc tgttcactgt attgggagag ccactgattt actccctgtc ttttccagaa cgttgtggtg agggaaaggg gtgcgttgga ggtgcaaagt cagcaacgat tgtggcagat ctgtctgaga caacaataca gacaccagat ggtgaggaga ggcttggggg agaggctcac tccatggtct gggaccccag tggggaacgt ctggctgtgc ttatgaaagg aaagccaagg gtacaggatg gtaaaccagt catcctcctt tttcgcactc gaaacagccc tgtgtttgag ctccttccct gtggcattat ccagggggag ccaggagccc agccccagct catcactttc catccttcct tcaacaaagg ggccctgctc agtgtgggct ggtccacagg ccgaattgcc cacatcccgc tgtactttgt caatgcccag tttccacgtt ttagcccagt gcttgggcgg gcccaggaac cccctgctgg gggtggaggc tctattcatg acctgcccct ctttactgag acatccccaa cctctgcccc ttgggaccct ctcccagggc caccacctgt tctgccccac tccccacatt cccacctcta a
OMIM
231550
Vector
pENTR223.1 or pUC
Clone Sequence Report
Provided with product shipment
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.
NCBI/Uniprot data below describe general gene information for AAAS. It may not necessarily be applicable to this product.
NCBI GI #
NCBI GeneID
NCBI Accession #
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
55,814 Da
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
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
UniProt Gene Name
UniProt Synonym Gene Names
ADRACALA  [Similar Products]
UniProt Entry Name
AAAS_HUMAN
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]
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
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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