STX1A

Chr 7

syntaxin 1A

Also known as: HPC-1, P35-1, STX1, SYN1A

NCBI Gene: 6804 ENSG00000106089 UniProt: Q16623 OMIM: 186590

This protein is a key component of the SNARE complex that mediates calcium-dependent neurotransmitter release and synaptic vesicle fusion at presynaptic terminals. Mutations cause early infantile epileptic encephalopathy with autosomal dominant inheritance, typically presenting with seizures beginning in infancy and developmental delays. The gene is highly constrained against loss-of-function variants, reflecting its essential role in synaptic transmission.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the syntaxin superfamily. Syntaxins are nervous system-specific proteins implicated in the docking of synaptic vesicles with the presynaptic plasma membrane. Syntaxins possess a single C-terminal transmembrane domain, a SNARE [Soluble NSF (N-ethylmaleimide-sensitive fusion protein)-Attachment protein REceptor] domain (known as H3), and an N-terminal regulatory domain (Habc). Syntaxins bind synaptotagmin in a calcium-dependent fashion and interact with voltage dependent calcium and potassium channels via the C-terminal H3 domain. This gene product is a key molecule in ion channel regulation and synaptic exocytosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.29

LOEUF· LoF intol.

Multiple*

Mechanism· predicted