SLC7A6OS
Function
Directs RNA polymerase II nuclear import.
Involvement in disease
Epilepsy, progressive myoclonic 12
EPM12
A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM12 is an autosomal recessive form characterized by onset of tonic-clonic seizures and/or myoclonus in the second decade of life. Affected individuals develop cerebellar ataxia associated with progressive cerebral and cerebellar atrophy on brain imaging. Most patients lose ambulation and become wheelchair-bound. Additional more variable features include mild cognitive dysfunction or psychiatric manifestations, such as depression or anxiety.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the IWR1/SLC7A6OS family.
Cellular localization
- Cytoplasm
- Nucleus
Alternative names
Probable RNA polymerase II nuclear localization protein SLC7A6OS, ADAMS proteinase-related protein, Solute carrier family 7 member 6 opposite strand transcript, SLC7A6OS