LSDDB

A currative database for lysosomal storage disorder

Ceroid Lipofuscinosis type 9 disease

This disease is similar to CLN 3. However the gene is still not identified. The CLN 9 deficient cells show a different phenotype when compared to all other CLNs. Rounded small cell bodies have been identified which show rapid growth. They were also found to have cell adhesion effect. Furthermore, it is reported that CLN 9 protein could moderate dihydroceramide synthase (Schulz et al., 2006, p. 9).

Reference :
Schulz, A. et al. (2006) ‘The CLN9 Protein, a Regulator of Dihydroceramide Synthase *’, Journal of Biological Chemistry, 281(5), pp. 2784–2794. doi:10.1074/jbc.M509483200.

Currently no mutations are associated with this type of LSD. Page will be updated if any mutatations are reported in future.