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FLASH GENE
Symbol GAN contributors: mct/npt - updated : 09-07-2009
HGNC name gigaxonin
HGNC id 4137
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminal BTB/POZ domain (broad complex, tramtrack and bric a brac) domain
  • six kelch repeats which are predicted to adopt a beta-propeller shape
    • HOMOLOGY
    Homologene
    FAMILY
  • BTB/Kelch family
    • CATEGORY chaperone/stress
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microfilament
    basic FUNCTION
  • putative link between actin and intermediate filaments
  • playing a role in neurofilament architecture
  • controls protein degradation, and is essential for neuronal function and survival
  • ubiquitin scaffolding protein that controls MAP1B-LC degradation
  • play an important role in cytoskeletal functions and dynamics by directing ubiquitin-mediated degradations of cytoskeletal proteins (Yang 2007)
  • playing an an essential role in neuronal maintenance (Cleveland 2009)
  • controls vimentin organization through a tubulin chaperone-independent pathway (Cleveland 2009)
    • CELLULAR PROCESS protein, degradation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • substrate adaptor for an E3 ubiquitin ligase, which affects proteasome-dependent degradation of microtubule-related proteins including MAP1B, MAP8 and the tubulin folding chaperone TBCB (Cleveland 2009)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GAN
    related resource Mutation Database of Inherited Peripheral Neuropathies
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS