Table 2.
Genes responsible for the monogenic forms of PD (OMIM).
| Locus | Gene | Chromosomal Region | Inheritance | Role of the Encoded Protein |
|---|---|---|---|---|
| PARK1/4 | SNCA | 4q22.1 | AD | -synaptic vesicles mobility |
| PARK2 | PRKN | 6q26 | AR | -mitophagy -ubiquitin-dependent protein degradation |
| PARK3 | --- | 2p13 | AD | -unknown |
| PARK5 | UCH-L1 | 4p13 | AD | -participate in generation of ubiquitin monomers |
| PARK6 | PINK1 | 1p36.12 | AR | -mitophagy |
| PARK7 | DJ1 | 1p36.23 | AR | -redox-sensitive chaperone (sensor for oxidative stress) |
| PARK8 | LRRK2 | 12p12 | AD | -chaperone mediated autophagy -participation in neuronal cell death -neuronal plasticity -vesicle trafficking |
| PARK9 | ATP13A2 | 1p36.13 | AR | -inorganic cations transport |
| PARK10 | --- | 1p32 | --- | -unknown |
| PARK11 | GIGYF2 | 2q37.1 | AD | -repressor of translation initiation |
| PARK12 | --- | Xq21-q25 | X-linked | -unknown |
| PARK13 | HTRA2 | 2p13.1 | AD | -caspase-dependent apoptosis |
| PARK14 | PLA2G6 | 22q13.1 | AR | -catalyse the release of fatty acids from phospholipids |
| PARK15 | FBXO7 | 22q12.3 | AR | -ubiquitination mediator |
| PARK16 | --- | 1q32 | --- | -unknown |
| PARK17 | VPS35 | 16q11.2 | AD | -retrograde transport of proteins from endosomes to the trans-Golgi network |
| PARK18 | EIF4G1 | 3q27.1 | AD | -mRNA binding in translation process |
| PARK19 | DNAJC6 | 1p31.3 | AR | -clarithin-mediated endocytosis |
| PARK20 | SYNJ1 | 21q22.11 | AR | -regulates levels of membrane phosphatidylinositol-4,5-bisphosphate |
| PARK21 | DNAJC13/TMEM230 | 3q22.1 | AD | -co-chaperone of heat shock protein -stimulation of ATP hydrolysis |
| PARK22 | CHCHD2 | 7p11.2 | AD | -negative regulator of mitochondria-mediated apoptosis -reduction of oxidative stress |
| PARK23 | VPS13C | 15q22.2 | AR | -proper mitochondrial function (maintenance of mitochondrial transmembrane potential) |