LSDDB

A currative database for lysosomal storage disorder

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Ceroid Lipofuscinosis type 5 disease

It is a late infantile form of Ceroid Lipofuscinosis. The gene CLN5 is located at 13q21-q32. CLN5 is a type 2 transmembrane protein which is cleaved into a soluble protein within the lysosomes. It is highly expressed in the brain and is involved in brain development. Also this protein is involved in neuronal repair, neurogenesis, synaptic endocytosis and most importantly autophagy (Luo et al., 2020, p. 5). It is also to be noted that CLN5 plays an important role in maintaining the acidic pH of the lysosomes which is very important for the function of lysosomes itself (Basak et al., 2021).

Reference :
Basak, I. et al. (2021) ‘A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis’, Cellular and Molecular Life Sciences, 78(10), pp. 4735–4763. doi:10.1007/s00018-021-03813-x.
Luo, S. et al. (2020) ‘Functional Analysis of a Novel CLN5 Mutation Identified in a Patient With Neuronal Ceroid Lipofuscinosis’, Frontiers in Genetics, 11, p. 1049. doi:10.3389/fgene.2020.536221.

Mutation PANTHER PhD-SNP SNPs&GO SIFT SNAP Meta-SNP
W26R Neutral Disease Disease Unclassified Disease Disease
R63H Neutral Disease Disease Disease Disease Disease
R63P Neutral Disease Disease Disease Disease Disease
C77Y Neutral Disease Disease Neutral Disease Disease
N143S Neutral Disease Disease Disease Disease Disease
L149P Disease Disease Disease Disease Disease Disease
P156S Neutral Neutral Disease Neutral Disease Neutral
W158R Neutral Disease Disease Disease Disease Disease
W158S Neutral Disease Disease Disease Disease Disease
N193K Neutral Disease Disease Disease Disease Disease
Y209D Neutral Disease Disease Disease Disease Disease
D230N Neutral Disease Disease Neutral Disease Disease
Y325C Disease Disease Disease Disease Disease Disease
W330C Disease Disease Disease Disease Disease Disease

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