NAPB

Required for vesicular transport between the endoplasmic reticulum and the Golgi apparatus.

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.

Belongs to the SNAP family.

• Membrane
• Peripheral membrane protein

SNAPB, NAPB, Beta-soluble NSF attachment protein, SNAP-beta, N-ethylmaleimide-sensitive factor attachment protein beta

• entrezGene:63908
• omim:611270
• swissprot:Q9H115

Proteins

Immuno-oncology

33557Da