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FLASH GENE
Symbol SLC16A12 contributors: mct/npt - updated : 26-10-2018
HGNC name solute carrier family 16 (monocarboxylic acid transporters), member 12
HGNC id 23094
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • 12 transmembrane domains (TMDs)
  • intracellular N- and C-termini and a large intracellular loop between TMDs 6 and 7
    • HOMOLOGY
    Homologene
    FAMILY
  • major facilitator superfamily
  • monocarboxylate porter family
    • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • proton-linked monocarboxylate transporter, catalyzing the rapid transport across the plasma membrane of many monocarboxylates
  • playing an important for lens and kidney homeostasis
  • mediates creatine transport, and may function as a guanidinoacetate transporter
  • functions as a basolateral exit pathway for creatine in the proximal tubule
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CJMG
    Susceptibility to age-related cataract
    Variant & Polymorphism other
  • alterations of the 5prime untranslated region of SLC16A12 lead to age-related cataract
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS