STX1B

Chr 16

syntaxin 1B

Also known as: GEFSP9, STX1B1, STX1B2

NCBI Gene: 112755 ENSG00000099365 UniProt: P61266

STX1B encodes syntaxin-1B, a membrane protein that mediates synaptic vesicle exocytosis and neurotransmitter release at synapses. Autosomal dominant mutations cause generalized epilepsy with febrile seizures plus, type 9, likely through impaired synaptic transmission. The high pLI score (0.99) indicates the gene is highly intolerant to loss-of-function variants.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

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. [provided by RefSeq, Jan 2015]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtGeneralized epilepsy with febrile seizures plus 9

Clinical highlights

Gene-disease validity (ClinGen)

generalized epilepsy with febrile seizures plus · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.27

LOEUF· LoF intol.

LOF

Mechanism· G2P

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GeneReview available — STX1B