STXBP1

STXBP1 (Syntaxin Binding Protein 1) is a protein that in humans is encoded by the STXBP1 gene. This protein is involved in the regulation of neurotransmitter release, a critical step in the neuronal communication process. Mutations in the STXBP1 gene have been associated with several neurological disorders, including Ohtahara syndrome, Dravet syndrome, and epileptic encephalopathy.

Function

STXBP1 is a crucial component of the neuronal synaptic vesicle machinery. It binds to and regulates the SNARE complex, a protein complex that mediates the fusion of synaptic vesicles with the neuronal membrane. This fusion process is essential for the release of neurotransmitters into the synaptic cleft, which allows for communication between neurons.

Clinical significance

Mutations in the STXBP1 gene can lead to a variety of neurological disorders. These mutations often result in a loss of function of the STXBP1 protein, disrupting the regulation of neurotransmitter release and leading to abnormal neuronal communication.

Ohtahara syndrome

Ohtahara syndrome is a severe form of epilepsy that begins in infancy. It is characterized by frequent seizures and severe developmental delay. Mutations in the STXBP1 gene are one of the genetic causes of Ohtahara syndrome.

Dravet syndrome

Dravet syndrome is another form of severe epilepsy that begins in infancy. It is characterized by frequent, prolonged seizures that are often triggered by high body temperature (fever), and developmental delay. Some cases of Dravet syndrome have been linked to mutations in the STXBP1 gene.

Epileptic encephalopathy

Epileptic encephalopathy is a broad term for a group of epilepsy syndromes that are characterized by severe cognitive and behavioral impairments. Mutations in the STXBP1 gene have been found in some individuals with epileptic encephalopathy.

See also

• Syntaxin
• SNARE (protein)
• Neurotransmission

References

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