NAPB
Function
Required for vesicular transport between the endoplasmic reticulum and the Golgi apparatus.
Involvement in disease
Developmental and epileptic encephalopathy 107
DEE107
A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE107 is an autosomal recessive form characterized by onset of seizures in the first months of life. Affected individuals have severe global developmental delay, profound intellectual disability, progressive microcephaly, and hypotonia.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the SNAP family.
Cellular localization
- Membrane
- Peripheral membrane protein
Alternative names
SNAPB, NAPB, Beta-soluble NSF attachment protein, SNAP-beta, N-ethylmaleimide-sensitive factor attachment protein beta