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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
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
8 - 4452 - 327 - 2006 16949250
8 - 4745 - 418 - 2006 16949250
8 - 4502 - 337 - 2006 16949250
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrineadrenal gland   highly
Nervousbrainhindbrain  highly
 brainbasal nucleicorpus callosum highly
 braindiencephalonepithalamus highly
 spinal cord   highly
Respiratoryrespiratory tracttrachea  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow  highly
Muscularstriatumskeletal highly
cell lineage
cell lines
fluid/secretion
at STAGE
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