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Gene id |
6804 |
| Gene Summary KEGG pathways Diseases PubMed |
Gene Summary
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Gene Symbol |
STX1A Gene UCSC Ensembl |
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Aliases |
HPC-1, P35-1, STX1, SYN1A |
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Gene name |
syntaxin 1A |
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Alternate names |
syntaxin-1A, neuron-specific antigen HPC-1, syntaxin 1A (brain), |
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Gene location |
7q11.23 (73719672: 73699209) Exons: 10 NC_000017.11
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Gene summary(Entrez) |
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
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OMIM |
186590 |
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| Associated diseases |
References |
| Diabetes | GAD: 17912268 |
| Migraine disorder | GAD: 19368856 |
| Alzheimer's disease | GAD: 19141999 |
| Epilepsy | GAD: 19557857 |
| Schizophrenia | GAD: 18512733 |
| Autism | GAD: 18593506 |
| Chronic kidney failure | GAD: 19578796 |
| May be involved in acrosome formation during spermiogenesis | MIK: 18621766 |
| Williams-Beuren syndrome | KEGG: H01439 |
| May be involved in acrosome formation during spermiogenesis | MIK: 18621766 |
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| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 18621766 |
May be inv
olved in
acrosome f
ormation d
uring sper
miogenesis
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Male infertility |
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Show abstract |
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