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FLASH GENE
Symbol TBC1D24 contributors: mct/pgu - updated : 10-09-2019
HGNC name TBC1 domain family, member 24
HGNC id 29203
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a Tre2/Bub2/Cdc16 (TBC) domain, nvolved in the interaction with ARF6
  • a TLDc domain with no reported putative function
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • may be having a critical role in developmentally regulated events essential for the morphological and functional maturation of neuronal circuitry
  • potent modulator of primary axonal arborization and specification in neuronal cell
  • additional function of TBC1D24 might be to help safeguard spiral ganglion neurons against oxidative stress
  • is a critical player in EFNB2 control of CNC cell migration via CIL
  • is also crucial for normal presynaptic function
  • essential role for TBC1D24 at the mammalian synapse
  • multifunctional protein involved in neuronal development, regulation of synaptic vesicle trafficking, and protection from oxidative stress
  • important role for TBC1D24 in connectivity during brain development
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • involvement of the TBC domain in the interaction with ARF6
  • putative RAB35-GTPase activating protein (RAB35 GAP), that complexes with EFNB2 via the scaffold Dishevelled (Dsh) and mediates a signal affecting contact inhibition of locomotion (CIL) in cranial neural crest (CNC) cells
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) IMEI , EIEE16 , DFNB86 , DOORS , DFNA65
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS