TABLE 1.
Gene | Protein | Function | References |
ASAH1 | N-acylsphingosine amidohydrolase 1 | Lysosomal lipid hydrolase | Aharon-Peretz et al., 2004; Robak et al., 2017 |
ATP13A2 | ATPase cation transporting 13A2 | Late endosomal transporter and lysosomal polyamine exporter | Ramirez et al., 2006 |
ATP6V0A1 | ATPase H + transporting V0 subunit a1 | Proton transporter regulating organelle acidification | Morel, 2003; Chang et al., 2017 |
CHCHD2 | Coiled-coil-helix-coiled-coil-helix domain-containing protein 2 | Localized to mitochondria intermembrane space; associated with the biogenesis and regulation of ETC proteins | Funayama et al., 2015; Kee et al., 2021 |
COQ7 | Coenzyme Q7 hydroxylase | Mitochondrial enzyme required for coenzyme Q synthesis | Freyer et al., 2015; Chang et al., 2017 |
CTSB | Cathepsin B | Lysosomal protease required for autophagy cargo degradation | Chang et al., 2017; Yadati et al., 2020 |
CTSD | Cathepsin D | Lysosomal endopeptidase | Benes et al., 2008; Robak et al., 2017 |
PARK7 | Parkinsonism associated deglycase (DJ1) | Redox-sensitive chaperone and protease | Bonifati et al., 2003; Hijioka et al., 2017 |
FBXO7 | F-box only protein 7 | Component of the SCF E3 ubiquitin ligase complex; role in PINK1-Parkin mitophagy | Fonzo et al., 2009; Burchell et al., 2013 |
GALC | Galactosylceramidase | Lysosomal hydrolase | Chang et al., 2017; Robak et al., 2017 |
GBA | Glucosylceramidase Beta | Lysosomal hydrolase | Sidransky et al., 2009; Magalhaes et al., 2016 |
LRRK2 | Leucine rich repeat kinase 2 | Serine/threonine kinase regulating Rab GTPase function in the endolysosomal system | Paisán-Ruíz et al., 2004; Bonet-Ponce et al., 2020 |
PRKN | Parkin RBR E3 ubiquitin protein ligase | Ubiquitylates mitochondrial proteins and an essential mitophagy regulator | Kitada et al., 1998; Pickrell and Youle, 2015 |
PINK1 | PTEN induced kinase 1 | Mitochondrial damage sensor; recruits and activates Parkin to initiate mitophagy | Valente et al., 2004; Pickrell and Youle, 2015 |
RAB7L1 | RAB7, member RAS oncogene family-like 1 | Recruits LRRK2 to the Golgi to promote Golgi-derived vesicle formation | Beilina et al., 2014; Nalls et al., 2014 |
SCARB2 | Scavenger receptor class B member 2 | Endosomal and lysosomal membrane protein associated with lipid transport and GBA targeting | Do et al., 2011; Gonzalez et al., 2014 |
SMPD1 | Sphingomyelin phosphodiesterase 1 | Lysosomal lipid hydrolase | Schuchman, 2010; Alcalay et al., 2019 |
TMEM175 | Transmembrane protein 175 | Potassium channel in late endosomes and lysosomes | Nalls et al., 2014; Zhang et al., 2020 |
VPS35 | VPS35 retromer complex component | Subunit of the retromer complex required for endosomal retrograde transport | Zimprich et al., 2011; Deng et al., 2013 |
ETC, Electron Transport chain; SCF, SKP1-CUL1-F-box protein.