Full Product Name
AAAS (Aladin, Adracalin, ADRACALA, GL003)
Product Synonym Names
Anti -AAAS (Aladin, Adracalin, ADRACALA, GL003)
Product Gene Name
anti-AAAS antibody
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Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Immunogen Sequence
MCSLGLFPPP PPRGQVTLYE HNNELVTGSS YESPPPDFRG QWINLPVLQL TKDPLKTPGR LDHGTRTAFI HHREQVWKRC INIWRDVGLF GVLNEIANSE EEVFEWVKTA SGWALALCRW ASSLHGSLFP HLSLRSEDLI AEFAQVTNWS SCCLRVFAWH PHTNKFAVAL LDDSVRVYNA SSTIVPSLKH RLQRNVASLA WKPLSASVLA VACQSCILIW TLDPTSLSTR PSSGCAQVLS HPGHTPVTSL AWAPSGGRLL SASPVDAAIR VWDVSTETCV PLPWFRGGGV TNLLWSPDGS KILATTPSAV FRVWEAQMWT CERWPTLSGR CQTGCWSPDG SRLLFTVLGE PLIYSLSFPE RCGEGKGCVG GAKSATIVAD LSETTIQTPD GEERLGGEAH SMVWDPSGER LAVLMKGKPR VQDGKPVILL FRTRNSPVFE LLPCGIIQGE PGAQPQLITF HPSFNKGALL SVGWSTGRIA HIPLYFVNAQ FPRFSPVLGR AQEPPAGGGG SIHDLPLFTE TSPTSAPWDP LPGPPPVLPH SPHSHL
Chromosome Location
Chromosome: 12; NC_000012.11 (53701240..53715412, complement). Location: 12q13
3D Structure
ModBase 3D Structure for Q9NRG9
Species Reactivity
Human, Mouse
Specificity
Recognizes human AAAS. Species Crossreactivity: mouse.
Purity/Purification
Affinity Purified
Purified by Protein A affinity chromatography.
Form/Format
Supplied as a liquid in PBS, pH 7.2.
Immunogen
Full length human AAAS, aa1-546 (NP_056480.1).
Preparation and Storage
May be stored at 4 degree C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degree C. Aliquots are stable for 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
Other Notes
Small volumes of anti-AAAS antibody 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.
Related Product Information for
anti-AAAS antibody
Plays a role in the normal development of the peripheral and central nervous system.
Product Categories/Family for anti-AAAS antibody
Antibodies; Abs to Nuclear Proteins
Applications Tested/Suitable for anti-AAAS antibody
Western Blot (WB)
Application Notes for anti-AAAS antibody
Suitable for use in Western Blot.
NCBI/Uniprot data below describe general gene information for AAAS. It may not necessarily be applicable to this product.
NCBI Accession #
NP_001166937.1
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NCBI GenBank Nucleotide #
NM_001173466.1
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UniProt Primary Accession #
Q9NRG9
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UniProt Secondary Accession #
Q5JB47; Q9NWI6; Q9UG19[Other Products]
UniProt Related Accession #
Q9NRG9[Other Products]
Molecular Weight
59,574 Da[Similar Products]
NCBI Official Full Name
aladin isoform 2
NCBI Official Synonym Full Names
achalasia, adrenocortical insufficiency, alacrimia
NCBI Official Symbol
AAAS [Similar Products]
NCBI Official Synonym Symbols
AAA; AAASb; GL003; ALADIN; ADRACALA; ADRACALIN
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NCBI Protein Information
aladin; Allgrove, triple-A
UniProt Protein Name
Aladin
UniProt Synonym Protein Names
Adracalin
UniProt Gene Name
AAAS [Similar Products]
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: nucleoplasm; centrosome; nuclear membrane; membrane; cytoplasm; nuclear envelope; nuclear pore; nucleus
Biological Process: mRNA transport; viral reproduction; cytokine and chemokine mediated signaling pathway; mitotic nuclear envelope disassembly; nucleocytoplasmic transport; pathogenesis; glucose transport; learning; viral infectious cycle; protein transport; fertilization; hexose transport; regulation of nucleocytoplasmic transport; carbohydrate metabolic process; gene expression; viral transcription; mitotic cell cycle; transmembrane transport
Disease: Achalasia-addisonianism-alacrima Syndrome
Research Articles on AAAS
1. A mutation is predicted to cause a p.Gln15Lys amino acid substitution in the ALADIN protein.">The compromising c.43C>A mutation is predicted to cause a p.Gln15Lys amino acid substitution in the ALADIN protein.
Precautions
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Disclaimer
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