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Table 1 Human genes known to harbor NCL-causing mutations and their orthologs known to cause NCL in dogs

From: A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis

Human disease Mutant gene Mutant protein Canine disease described?
CLN1 PPT1 [2] Palmitoyl-protein thioesterase 1 Yes [16]
CLN2 TPP1 [3] Tripeptidyl peptidase 1 Yes [17]
CLN3 CLN3 [4] CLN3 No
CLN4 DNAJC5 [5] DNAJC5 No
CLN5 CLN5 [6] CLN5 Yes [18]
CLN6 CLN6 [7,8] CLN6 Yes [19]
CLN7 MFSD8 [9] MFSD8 Yes [Current report]
CLN8 CLN8 [10] CLN8 Yes [20,21]
CLN10 CTSD [11] Cathepsin D Yes [22]
CLN11 GRN [12] Granulin No
CLN12 ATP13A2 [13] ATP13A2 Yes [23,24]
CLN13 CTSF [14] Cathepsin F No
CLN14 KCTD7 [15] KCTD7 No