TABLE 1.
Human Disease | Gene | Protein | Protein Localization | Protein Function |
---|---|---|---|---|
CLN1 | PPT1 Vesa et al. (1995) | Palmitoyl-protein thioesterase 1 | Lysosome | Protein localization regulation Gorenberg et al. (2021) |
CLN2 | TPP1 Sleat et al. (1997) | Tripeptidyl-peptidase 1 | Lysosome | Lysosomal protease Lin et al. (2001) |
CLN3 | CLN3 Mitchison et al. (1997) | Battenin | Endolysosome | Lysosomal acidification Pearce et al. (1999) |
CLN4 | DNAJC5 Nosková et al. (2011) | CSPα/DNAJC5 | Endolysosome | Co-chaperone Braun et al. (1996) |
CLN5 | CLN5 Savukoski et al. (1998) | CLN5 | Lysosome | Lysosome to TGN trafficking Mamo et al. (2012) |
CLN6 | CLN6 Gao et al. (2002) | CLN6 | ER | Cargo trafficking Bajaj et al. (2020) |
CLN7 | MFSD8 Siintola et al. (2007) | MFSD8 | Lysosome | Transporter Sharifi et al. (2010) |
CLN8 | CLN8 Ranta et al. (1999) | CLN8 | ER | Cargo trafficking di Ronza et al. (2018) |
CLN10 | CTSD Siintola et al. (2006) | Cathepsin D | Lysosome | Lysosomal protease Cullen et al. (2009) |
CLN11 | GRN Smith et al. (2012) | Granulin | Lysosome | Lysosomal regulation Kao et al. (2017) |
CLN12 | ATP13A2 Bras et al., (2012) | ATP13A2 | Endolysosome | Polyamine transporter van Veen et al. (2020) |
CLN13 | CTSF Smith et al., (2013) | Cathepsin F | Lysosome | Lysosomal protease Shi et al. (2000) |
CLN14 | KCTD7 Staropoli et al., (2012) | KCTD7 | Cytosol | Unknown |