STXBP1 is essential for neurotransmitter release, the key mechanism by which neurons communicate with one another. STXBP1 is part of the SNARE complex, which also includes other proteins such as syntaxin-1.

All children with an STXBP1-related disorder have a pathogenic variant (“mutation”) in the gene STXBP1, which encodes the instructions to make a protein in the brain that is essential to how brain cells communicate with one another.

Syntaxin-binding protein 1 (also known as Munc18-1) is a protein that in humans is encoded by the STXBP1 gene. [5] . This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor.

Welcome to the STXBP1 Foundation, a 501(c)3 dedicated to raising awareness and finding a cure for STXBP1-Related Disorder, a rare neurodevelopmental condition and genetic epilepsy. We work with families, physicians, scientists, and pharmaceutical innovators.

2021年2月1日 · STXBP1-related disorders are caused by changes, or pathogenic variants in the STXBP1 gene, which is located on chromosome 9. These are autosomal dominant disorders, meaning that the symptoms manifest when one of two copies (alleles) of the STXBP1 gene are affected by a pathogenic change.

STXBP1 encephalopathy is a condition characterized by abnormal brain function (encephalopathy) and intellectual disability. Explore symptoms, inheritance, genetics of this condition.

Mutations in Munc18-1/STXBP1 (syntaxin-binding protein 1) are linked to various severe early epileptic encephalopathies and neurodevelopmental disorders. Heterozygous mutations in the STXBP1 gene include missense, nonsense, frameshift, and splice ...

2024年12月25日 · STXBP1 (Syntaxin Binding Protein 1) is a Protein Coding gene. Diseases associated with STXBP1 include Developmental And Epileptic Encephalopathy 4 and Infantile Epilepsy Syndrome. Among its related pathways are Neurotransmitter release cycle and Integration of energy metabolism.

2024年9月1日 · STXBP1 encephalopathy (STXBP1 -E) is a rare neurodevelopmental disorder that includes epilepsy; it is caused by de novo STXBP1 mutations. In clinical settings, pharmaceutical interventions to treat STXBP1 -E predominantly concentrate on seizure control.

The STXBP1 gene provides instructions for making syntaxin-binding protein 1. In nerve cells (neurons), this protein helps regulate the release of chemical messengers called neurotransmitters from compartments known as synaptic vesicles.