Recombinant Full Length Human AAAS Protein, GST-tagged

• Cat.No.: AAAS-743HF
• 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

• Species: Human
• Source: In Vitro Cell Free System
• Tag: GST
• Protein Length: 546 amino acids
• 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]
• Molecular Mass: 86 kDa
• AA 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
• Applications: Enzyme-linked Immunoabsorbent Assay; Western Blot (Recombinant protein); Antibody Production; Protein Array
• Storage: Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing.
• Storage Buffer: 50 mM Tris-HCl, 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