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FIGURE: 1 / 1
Please note: We are reviewing Western blot images included in the antibody testing data in our catalog, including those provided by third parties. Unless expressly labeled or annotated as “raw-unedited”, Western blot images included in the antibody testing data in our catalog may have been edited, optimized or otherwise adjusted for presentation.
Immunogen sequence: GGGVTNLLWS PDGSKILATT PSAVFRVWEA QMWTCERWPT LSGRCQTGCW SPDGSRLLFT VLGEPLIYSL SFPERCGEGK GCVGGAKSAT IVADLSETTI QTPDGEERLG GEAHSMVWDP SGERLAVLMK GKPRVQDGKP VILLFRTRNS PVFELLPCGI IQGEPGAQPQ LITFHPSFNK GALLSVGWST GRIAHIPLYF VNAQFPRFSP VLGRAQEPPA GGGGSIHDLP LFTETSPTSA PWDPLPGPPP VLPHSPHSHL
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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