Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Immunogen sequence: SLSTRPSSG CAQVLSHPGH TPVTSLAWAP SGGRLLSASP VDAAIRVWDV STETCVPLPW FRGGGVTNLL WSPDGSKILA TTPSAVFRVW EAQMWTCERW PTLSGRCQTG CWSPDGSRLL FTVLGEPLIY SLSFPERCGE GKGCVGGAKS ATIVADLSET TIQTPDGEER LGGEAHSMVW DPSGERLAVL MKGKPRVQDG KPVILLFRTR NSPVFELLPC GIIQGEPGAQ PQLITFHPSF NKGALLSVGW STGRIAHIPL YFVNAQFPRF SPVLGRAQEP PAGGGGSIHD LPLFTETSPT SAPWDPLPGP PPVLPHSPHS HL (226-546 aa encoded by BC000659)
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.
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Protein Aliases: achalasia, adrenocortical insufficiency, alacrimia; Adracalin; Aladin; Allgrove, triple-A
Gene Aliases: AAA; AAAS; AAASb; ADRACALA; ADRACALIN; ALADIN; D030041N15Rik; GL003
UniProt ID: (Human) Q9NRG9, (Mouse) P58742
Entrez Gene ID: (Human) 8086, (Mouse) 223921
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