Recombinant Human AAAS Protein, GST-tagged

• Cat.No.: AAAS-006H
• Product Overview: Human AAAS full-length ORF ( NP_056480.1, 1 a.a. - 546 a.a.) recombinant protein with GST-tag at N-terminal.

Specification

• Description: 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]
• Source: Wheat Germ
• Species: Human
• Tag: GST
• Molecular Mass: 86 kDa
• AA Sequence: MCSLGLFPPPPPRGQVTLYEHNNEL VTGSSYESPPPDFRGQWINLPVLQL TKDPLKTPGRLDHGTRTAFIHHREQ VWKRCINIWRDVGLFGVLNEIANSE EEVFEWVKTASGWALALCRWASSLH GSLFPHLSLRSEDLIAEFAQVTNWS SCCLRVFAWHPHTNKFAVALLDDSV RVYNASSTIVPSLKHRLQRNVASLA WKPLSASVLAVACQSCILIWTLDPT SLSTRPSSGCAQVLSHPGHTPVTSL AWAPSGGRLLSASPVDAAIRVWDVS TETCVPLPWFRGGGVTNLLWSPDGS KILATTPSAVFRVWEAQMWTCERWP TLSGRCQTGCWSPDGSRLLFTVLGE PLIYSLSFPERCGEGKGCVGGAKSA TIVADLSETTIQTPDGEERLGGEAH SMVWDPSGERLAVLMKGKPRVQDGK PVILLFRTRNSPVFELLPCGIIQGE PGAQPQLITFHPSFNKGALLSVGWS TGRIAHIPLYFVNAQFPRFSPVLGR AQEPPAGGGGSIHDLPLFTETSPTS APWDPLPGPPPVLPHSPHSHL
• Applications: Enzyme-linked Immunoabsorbent Assay
  Western Blot (Recombinant protein)
  Antibody Production
  Protein Array
• Notes: Best use within three months from the date of receipt of this protein.
• Storage: Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing.
• Storage Buffer: 50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.

Gene Information

• Gene Name: AAAS achalasia, adrenocortical insufficiency, alacrimia [ Homo sapiens ]
• Official Symbol: AAAS
• Synonyms: AAAS; achalasia, adrenocortical insufficiency, alacrimia; achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple A); aladin; Allgrove; triple A; Allgrove, triple-A; AAA; AAASb; GL003; ALADIN; ADRACALA; ADRACALIN; DKFZp586G1624
• Gene ID: 8086
• mRNA Refseq: NM_001173466
• Protein Refseq: NP_001166937
• MIM: 605378
• UniProt ID: Q9NRG9