LSDDB

A currative database for lysosomal storage disorder

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Ceroid Lipofuscinosis type 3 disease

CLN 3: It is a juvenile onset Ceroid Lipofuscinosis (JNCL). This is caused due to the mutations in the CLN3 gene located at 16p12.1. The CLN3 protein has antiapoptotic properties and coordinates autophagy in neurons. Therefore any mutations in the encoding gene causes increased apoptosis and also show altered levels of shphingomyelin and ceramides (Rusyn et al., 2008; Tang et al., 2021).

Reference :
Rusyn, E. et al. (2008) ‘CLN3p Impacts Galactosylceramide Transport, Raft Morphology, and Lipid Content’, Pediatric Research, 63(6), pp. 625–631. doi:10.1203/PDR.0b013e31816fdc17.
Tang, C. et al. (2021) ‘A human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor–RPE interface’, Communications Biology, 4(1), pp. 1–18. doi:10.1038/s42003-021-01682-5.

Mutation PANTHER PhD-SNP SNPs&GO SIFT SNAP Meta-SNP
L101P Disease Disease Disease Disease Disease Disease
C134R Neutral Disease Disease Disease Disease Disease
L170P Disease Disease Disease Disease Disease Disease
G187A Disease Disease Disease Disease Disease Disease
G189R Disease Disease Disease Disease Disease Disease
E295K Disease Disease Disease Disease Disease Disease
V330F Disease Disease Disease Disease Disease Disease
R334C Disease Disease Disease Disease Disease Disease
R334H Disease Disease Disease Disease Disease Disease

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