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FLASH GENE
Symbol SLC16A8 contributors: mct/npt - updated : 26-03-2020
HGNC name solute carrier family 16, member 8 (monocarboxylic acid transporter 3)
HGNC id 16270
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies homolog to murine Slc16a8
homolog to rattus Slc16a8
intraspecies homolog to SLC16A3
Homologene
FAMILY
  • major facilitator superfamily
  • monocarboxylate porter family
    • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    text preferentially expressed in the basolateral membrane of the retinal pigment epithelium (Daniele 2008)
    basic FUNCTION
  • proton-coupled transporter
  • transport of lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate
  • proton-coupled monocarboxylate transporter, critically positioned to facilitate transport of lactate and H(+) out of the retina and could therefore play a role in pH and ion homeostasis of the outer retina (
  • disruption of SLC16A18 leads to a potentially reversible decrease in subretinal space pH, thereby reducing the magnitude of the light suppressible photoreceptor current
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS active transport
    text small molecule transport
    PATHWAY
    metabolism monocarbon
    signaling
    a component
  • forms a heteromeric complex with the accessory protein CD147 (Daniele 2008)
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    leads to a potentially reversible decrease in subretinal space pH, thereby reducing the magnitude of the light suppressible photoreceptor current (Daniele 2008)
    constitutional germinal mutation      
    associated with severe psychomotor retardation and triiodothyronine T3 levels (Visser 2008)
    Susceptibility to age-related macular degeneration (AMD)
    Variant & Polymorphism other
  • expression level of SLC16A8 was significantly associated with AMD pathology
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS