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FLASH GENE
Symbol SLC25A46 contributors: mct - updated : 01-10-2020
HGNC name solute carrier family 25, member 46
HGNC id 25198
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies ortholog to Ugo1
Homologene
FAMILY
CATEGORY transport carrier
SUBCELLULAR LOCALIZATION     plasma membrane
    intracellular
intracellular,cytoplasm,organelle,mitochondria,outer
intracellular,cytoplasm,organelle,membrane
basic FUNCTION
  • Ugo1-like protein,and a modified carrier protein that has been recruited to the outer mitochondrial membrane and interacts with the inner membrane remodeling protein mitofilin (IMMT)
  • plays a role in a mitochondrial/ER pathway that facilitates lipid transfer, and link altered mitochondrial dynamics to early-onset neurodegenerative disease and cell fate decisions
  • may play an important role in mitochondrial dynamics by mediating mitochondrial fission
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • integral outer membrane protein that interacts with MFN2, OPA1, and the mitochondrial contact site and cristae organizing system (MICOS) complex
  • SLC25A46 interacts with the inner membrane remodeling protein mitofilin (IMMT)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    causes degeneration in neurons by affecting mitochondrial dynamics and energy production
    constitutional     --low  
    depletion of SLC25A46a leads to mitochondrial defects followed by an aberrant synaptic morphology, resulting in locomotive defects and learning disability
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice lacking SLC25A46 displayed severe ataxia, mainly caused by degeneration of Purkinje cells