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Search results 1 to 1 out of 1 for Cln5

Category restricted to ProteinDomain (x)

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Category: ProteinDomain
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Type Details Score
Protein Domain
IPR026138 | CLN5
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 [, , , , , , , ].
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