Disease:Haploinsufficiency of STX1A may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in Williams-Beuren syndrome (WBS) , a rare developmental disorder. It is a contiguous gene deletion syndrome involving genes from chromosome band 7q11.23. ,Function:Potentially involved in docking of synaptic vesicles at presynaptic active zones. May play a critical role in neurotransmitter exocytosis. ,similarity:Belongs to the syntaxin family. ,similarity:Contains 1 t-SNARE coiled-coil homology domain. ,subunit:Part of the SNARE core complex containing SNAP25 , VAMP2 and STX1A. This complex binds to CPLX1. Binds SYTL4 and STXBP6. Found in a ternary complex with STX1A and SNAP25. Interacts with OTOF (By similarity) . Found in a complex with VAMP8 and SNAP23. Interacts with VAPA and SYBU. ,tissue specificity:Isoform 1 is highly expressed in embryonic spinal chord and ganglia and in adult cerebellum and cerebral cortex. Isoform 2 is expressed in heart , liver , fat , skeletal muscle , kidney and brain. ,
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