SEMA6B
Function
Functions as a cell surface repellent for mossy fibers of developing neurons in the hippocampus where it plays a role in axon guidance. May function through the PLXNA4 receptor expressed by mossy cell axons.
(Microbial infection) Acts as a receptor for P.sordellii toxin TcsL in the in the vascular endothelium.
Involvement in disease
Epilepsy, progressive myoclonic 11
EPM11
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. EPM11 is an autosomal dominant form. Clinical features include normal or mildly delayed early development, developmental regression after seizures onset, inability to walk, severely impaired intellectual development, poor or absent speech, spasticity, ataxia, and intention tremor. Brain imaging shows cerebellar atrophy in some patients.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the semaphorin family.
Tissue Specificity
Expressed in the brain in GABAergic neurons.
Cellular localization
- Cell membrane
- Single-pass type I membrane protein
Alternative names
SEMAN, SEMAZ, UNQ1907/PRO4353, SEMA6B, Semaphorin-6B, Semaphorin-Z, Sema Z