Symbol
| SLC25A46
| contributors: mct - updated : 01-10-2020
|
HGNC name
| solute carrier family 25, member 46
|
HGNC id
| 25198
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
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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 | |
Variant & Polymorphism
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| |
Candidate gene
Marker
Therapy target
| | | |
| mice lacking SLC25A46 displayed severe ataxia, mainly caused by degeneration of Purkinje cells |