Article

Disease-causing mutations in Synaptotagmin can act via dominant-negative, gain-of-function or haploinsufficient mechanisms

2026-03-18

Abstract excerpt

<h4>Summary</h4> Members of the Synaptotagmin (SYT) family of synaptic vesicle (SV) proteins contain two Ca 2+ binding C2 domains (C2A and C2B) that regulate the timing and probability of SV fusion. Recently, dominant mutations in SYT1, present at most CNS synapses, and SYT2, abundant in the PNS, have been found to cause human neurological diseases. Most pathogenic alleles localize to the C2B Ca 2+ binding pock...

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Literature Corpus work: 142d7253-455a-5f96-9745-0f501df212a2
DOI: 10.64898/2026.03.17.712223

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