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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
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