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FLASH GENE
Symbol CLCN6 contributors: mct - updated : 09-12-2020
HGNC name chloride channel 6
HGNC id 2024
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • twelve alpha helical membrane spanning protein cytoplasmic N and C terminals
  • two CBS forming a stable globular domain
    • HOMOLOGY
    interspecies homolog to murine Clcn6
    Homologene
    FAMILY CLCN family
    CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    text
  • colocalized with markers for late endosomes in neuronal cell bodies
  • predominantly found in late endosomes of the nervous system
    • basic FUNCTION
  • chloride voltage-gated channel, regulating cell volume, membrane potential stabilization, transepithelial transport
  • CLCN6 is a Cl(-)/H(+) antiporter
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DDHRND
    Susceptibility to epilepsy disorders
    Variant & Polymorphism other
  • pathogenic and likely pathogenic variants in CLCN6 in epilepsy disorders
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Clcn6 -/- mice have only mild neuronal lysosomal storage abnormalities