STX1A
STX1A (Syntaxin-1A) is a protein that in humans is encoded by the STX1A gene. It is a member of the syntaxin family, which plays a crucial role in the neurotransmission process.
Function[edit | edit source]
STX1A is involved in the regulation of neurotransmitter release. It is an essential component of the neuronal synaptic vesicle fusion machinery. STX1A, in combination with SNAP25 and VAMP2, forms a complex that mediates the fusion of synaptic vesicles with the presynaptic membrane, resulting in the release of neurotransmitters.
Clinical significance[edit | edit source]
Mutations in the STX1A gene have been associated with various neurological disorders, including epilepsy, migraine, and hyperekplexia. Research is ongoing to further understand the role of STX1A in these conditions and to develop potential treatments.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD
