Home > Gene Browser > STX1B

STX1B

Synonyms
GEFSP9, STX1B1, STX1B2
External resources
Summary
The protein encoded by this gene belongs to a family of proteins thought to play a role in the exocytosis of synaptic vesicles. Vesicle exocytosis releases vesicular contents and is important to various cellular functions. For instance, the secretion of transmitters from neurons plays an important role in synaptic transmission. After exocytosis, the membrane and proteins from the vesicle are retrieved from the plasma membrane through the process of endocytosis. Mutations in this gene have been identified as one cause of fever-associated epilepsy syndromes. A possible link between this gene and Parkinson's disease has also been suggested.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
385
Likely benign
1,084
Benign
499

Patient Phenotypes

No patients carry pathogenic or likely pathogenic variants on STX1B gene.

Phenotype class
Patients in 3billion (%)

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