STX1A Chromosome 7
Syntaxin 1A
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What This Gene Does
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]
Gene Info
Gene Group
Syntaxins
Locus Type
gene with protein product
Location
7q11.23
Ensembl
ENSG00000106089
Associated Conditions (4)
Neurodevelopmental abnormality
Intellectual disability
Seizure
Autism
Key Variants
RS200456346
Likely pathogenic
Neurodevelopmental abnormality, Intellectual disability, Seizure
Health Risk
RS2116724168
Likely pathogenic
Autism, Intellectual disability, Autism
Health Risk
RS2116730958
Likely pathogenic
Intellectual disability, Seizure, Intellectual disability
Health Risk
RS2116730968
Likely pathogenic
Autism, Intellectual disability, Autism
Health Risk
RS2116731315
Likely pathogenic
Intellectual disability, Seizure, Intellectual disability
Health Risk
RS2116737208
Pathogenic
Autism, Intellectual disability, Autism
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200456346 | Health Risk | Likely pathogenic | Neurodevelopmental abnormality, Intellectual disability, Seizure |
| RS2116724168 | Health Risk | Likely pathogenic | Autism, Intellectual disability, Autism |
| RS2116730958 | Health Risk | Likely pathogenic | Intellectual disability, Seizure, Intellectual disability |
| RS2116730968 | Health Risk | Likely pathogenic | Autism, Intellectual disability, Autism |
| RS2116731315 | Health Risk | Likely pathogenic | Intellectual disability, Seizure, Intellectual disability |
| RS2116737208 | Health Risk | Pathogenic | Autism, Intellectual disability, Autism |