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FLASH GENE
Symbol SLC25A18 contributors: mct/npt - updated : 08-03-2017
HGNC name solute carrier family 25, (mitochondrial carrier), member 18
HGNC id 10988
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • six membrane spanning domains
  • three tandemly repeated mitochondrial carrier protein domains
  • three solcar repeats
  • HOMOLOGY
    intraspecies homolog to SLC25A13 (citrin)
    homolog to Aralar 1 and 2
    Homologene
    FAMILY
  • mitochondrial carrier family
  • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,nuclear envelope
    basic FUNCTION
  • mediates solute transport across the inner mitochondrial membrane, a process that is still poorly characterized regarding both the mechanisms and proteins implicated (Casimir 2009)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS mitochondrial transport
    text energy transfer
    PATHWAY
    metabolism energetic
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   amplification    
    of the genes CECR2, SLC25A18 and ATP6V1E1, mapping within the critical region for CES, may be responsible for anorectal, renal and preauricular anomalies in patients with Cat eye syndrome (CES)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS