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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