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FLASH GENE
Symbol SLC6A8 contributors: mct/pgu - updated : 13-06-2018
HGNC name solute carrier family 6 (neurotransmitter transporter, creatine), member 8
HGNC id 11055
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • twelve transmembrane segments
  • HOMOLOGY
    interspecies homolog to C.elegans T03F7.1
    homolog to murine Slc6a8
    Homologene
    FAMILY
  • sodium neurotransmitter symporter family
  • SLC6A8 subfamily
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    text presence of a functional SLC6A8 in the axon terminal membrane that may serve to recapture the creatine released during the synapsis
    basic FUNCTION
  • Na+ (and Cl-) dependent plasma membrane transporter required for the uptake of creatine
  • playing an essential role in the storage and transmission of phosphate-bound energy
  • in most brain regions, may be transporting guanidinoacetate from GATM/GAMT-expressing cells to allow creatine synthesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with SGK1, SGK3 (increase SLC6A8 activity by increasing the maximal transport rate of the carrier)
  • Klotho protein up-regulates the activity of creatine transporter SLC6A8 by stabilizing the carrier protein in the cell membrane, an effect requiring beta-glucuronidase activity of KL protein
  • both, STK39 and OSR1, are negative regulators of the creatine transporter SLC6A8
  • cell & other
    REGULATION
    activated by FRAP1
    ASSOCIATED DISORDERS
    corresponding disease(s) CRTRD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in astrocytes around the blood-brain barrier limits the brain capacity to import creatine from the periphery, and suggests that the CNS has to rely mainly on endogenous creatine synthesis through GATM/GAMT
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS