LSDDB

A currative database for lysosomal storage disorder

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Ceroid Lipofuscinosis type 7 disease

This disease follows an autosomal recessive pattern of inheritance. The gene MFSD8 (major facilitator superfamily domain containing protein 8 gene) encoding CLN7 protein is located at 4q28.1-q28.2 (Siintola et al., 2007, p. 8). Though the exact function of CLN 7 is unclear, it was found to have 12 domains which span along membranes. Mutations in the gene cause accumulation of glycoproteins and lipoproteins subsequently cellular degeneration (McBride et al., 2018).

Reference :
McBride, J.L. et al. (2018) ‘Discovery of a CLN7 model of Batten disease in non-human primates’, Neurobiology of disease, 119, pp. 65–78. doi:10.1016/j.nbd.2018.07.013.
Siintola, E. et al. (2007) ‘The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter’, The American Journal of Human Genetics, 81(1), pp. 136–146. doi:10.1086/518902.

Mutation PANTHER PhD-SNP SNPs&GO SIFT SNAP Meta-SNP
G52R Disease Disease Disease Disease Disease Disease
Y121C Disease Disease Disease Disease Disease Disease
R139H Disease Disease Disease Disease Disease Disease
A157P Disease Disease Disease Disease Disease Disease
T160I Disease Disease Neutral Unclassified Disease Disease
T160N Disease Disease Disease Unclassified Neutral Disease
T294K Disease Disease Disease Disease Disease Disease
G310D Disease Disease Disease Disease Disease Disease
P412L Unclassified Disease Neutral Neutral Disease Disease
G429D Disease Disease Disease Disease Disease Disease
P447L Disease Disease Disease Neutral Disease Disease
T458K Disease Disease Disease Disease Disease Disease
R465Q Disease Neutral Disease Disease Disease Disease
R465W Disease Disease Disease Disease Disease Disease
M470V Disease Neutral Neutral Neutral Neutral Neutral

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