Protein Domain : Ceroid-lipofuscinosis neuronal protein 5 IPR026138

Type  Family
Description  This protein family consist of CLN5 and CLN5-like proteins. Defects in CLN5 are the cause of neuronal ceroid lipofuscinosis type 5 (CLN5), also known as Finnish variant late-infantile neuronal ceroid lipofuscinosis (vLINCL). Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterised by intracellular accumulation of autofluorescent liposomal material [ , , , , , , , ].
Short Name  CLN5

0 Child Features

0 Gene Families

0 Genes

1 Ontology Annotations

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