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FLASH GENE
Symbol SNX14 contributors: mct - updated : 04-12-2014
HGNC name sorting nexin 14
HGNC id 14977
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a Phox (PX) and regulator of G protein signaling (RGS) domains
  • one PXA domain
  • a putative double transmembrane domain including a short cytoplasmic leader sequence
    • HOMOLOGY
    Homologene
    FAMILY
  • sorting nexin family
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endosome
    basic FUNCTION
  • involved in several stage of intracellular trafficking
  • role for monoallelic SNX14 expression in maintaining normal neuronal excitability and synaptic transmission
  • essential role for SNX14 in neural development and function, particularly in development and maturation of the cerebellum
  • role for SNX14 in endosomal sorting and the regulation of protein degradation
  • essential role for SNX14 with the breakdown and recycling of cellular components in human cerebellar development and maintenance
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SCAR17
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS