disease 769 words KG: ent-dise-2275be22
Contents

SNCA Gene Variants and Mutations

Disease Info
Synaptic vesicle regulationAlpha-synuclein modulates synaptic vesicle pooling and neurotransmitter release
Membrane interactionThe protein binds to lipid membranes, potentially regulating vesicle trafficking
Antioxidant functionAlpha-synuclein may protect neurons from oxidative stress
Chaperone activityThe protein has molecular chaperone properties, aiding protein folding
MonomericUnfolded, cytosolic form
OligomericSmall aggregates (toxic intermediate)
FibrillarForms Lewy bodies in disease states
SNCA duplicationCauses autosomal dominant PD
SNCA triplicationCauses early-onset PD with rapid progression (Parkinsonism-Dementia Complex of Guam)
Lewy body formationAbnormal aggregation of alpha-synuclein into insoluble fibrils
Synaptic dysfunctionLoss of normal protein function disrupts neurotransmitter release
Mitochondrial dysfunctionAlpha-synuclein toxicity affects mitochondrial quality control
DatabasesOMIMOrphanetClinicalTrialsPubMed

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