Table 1.
Neurodegenerative Disease | Gene | Function |
---|---|---|
Parkinson Disease *adapted from Verstraeten et al. 2015 [1] |
SNCA (PARK1) | Encodes a-synuclein, the primary component in Lewy bodies [14] |
PARK2 | E3 ubiquitin ligase, protein degradation [15] | |
PINK1 (PARK6) | Serine/threonine kinase, stress-induced mitochondrial response [15] | |
DJ-1 (PARK7) | Antioxidant and oxidative stress sensor [15] | |
LRRK2 (PARK8) | Leucine-rich repeat kinase 2, scaffold protein function. Overall function unknown [15] | |
ATP13A2 (PARK9) | Lysosomal transmembrane ATPase protein, necessary for lysosomal function [16] | |
PLA2G6 (PARK14) | Encodes iPLA2-VI, cell membrane homeostasis [18] | |
FBXO7 (PARK15) | F-box-containing protein, protection of neurons and apoptosis inhibitor [17] | |
VPS35 (PARK17) | Subunit of retromer complex, involved in Golgi endosomal transport [19] | |
EIF4G1 (PARK18) | Eukaryotic translation initiation factor 4-gamma 1, translation initiation [20] | |
DNAJC6 | Encodes auxilin, synaptic vesicle recycling [21] | |
ATP6AP2 | (Pro)renin receptor, glucose metabolism [22] | |
COQ2 | Ubiquinone, mitochondrial electron transport chain [23] | |
SYNJ1 | Encodes synaptojanin 1, synaptic vesicle recycling [21] | |
DNAJC13 | Regulation of endosomal clathrin coats [24] | |
Alzheimer’s Disease *adapted from Vilatela et al. 2012 [25] |
APP | Transmembrane protein, amyloid plaques in AD [26] |
PSEN1 | Component of gamma-secretase, cleaves APP [26] | |
PSEN2 | Component of gamma-secretase, cleaves APP [26] | |
APOE | Glycoprotein, cholesterol distribution [26] | |
Huntington’s disease | Huntingtin | Aggregation leads to neurodegeneration [27] |