SLC7A6OS

Full Name

solute carrier family 7, member 6 opposite strand

Function

Directs RNA polymerase II nuclear import.

Biological Process

Biological Process developmental processManual Assertion Based On ExperimentIBA:GO_Central
Biological Process hematopoietic progenitor cell differentiationIEA:Ensembl
Biological Process protein transportIEA:UniProtKB-KW

Cellular Location

Cytoplasm
Nucleus

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.