Synaptotagmin-1 is a predominantly presynaptic Ca2+-sensor involved in synaptic vesicle exocytosis and endocytosis. In<unk> , mutations disrupt synaptotagmin-1 function causing a reduction in neurotransmitter release.
SYT1-associated neurodevelopmental disorder
SYNGAP1-related intellectual disability
LMNA-related congenital muscular dystrophy
MECP2 duplication syndrome
Dopamine transporter deficiency syndrome
X-linked spinal muscular atrophy type 2
Foster Kennedy syndrome
Huntington's disease-like syndrome