C9ORF72

Guanine nucleotide exchange C9orf72

    view_headline
    Description

    C9ORF72 is a protein with 54 kDa. Has various molecular functions, such as Rab GTPase binding. Is involved in several biological processes, including endocytosis.

     

     

     

     

     

    view_module
    Tags
    view_module
    Details
    • Complete Protein Name
      Guanine nucleotide exchange C9orf72
    • Gene ID
      203228
    • Uniprot ID
      Q96LT7
    • Chromossomal Location
      9p21.2
    • RNA-binding protein
      No
    • Molecular Function
      Guanyl-nucleotide exchange factor activity ,Rab GTPase binding
    • OMIM Disease
      Frontotemporal dementia; amyotrophic lateral sclerosis
    • Used cell type
      N2a
    • Used Stimuli
      Dithiothreitol, heat shock
    • Subcellular Localization
      Endosome, Lysosome, Nucleus, Secreted, Cytoplasm, P-body, autophagosome, axon, growth cone, Perikaryon
    • Reference
      Maharjan N., Künzli C., Buthey K., Saxena S.(2017). C9ORF72 Regulates Stress Granule Formation and Its Deficiency Impairs Stress Granule Assembly, Hypersensitizing Cells to Stress. Mol Neurobiol. 2017 May;54(4):3062-3077
    keyboard_arrow_up