Family

Ceroid-lipofuscinosis neuronal protein 5 (IPR026138)

Short name: CLN5

Family relationships

None.

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 [PMID: 9662406, PMID: 15728307, PMID: 16814585, PMID: 17607606, PMID: 19309691, PMID: 21990111, PMID: 16935476, PMID: 16033706].

GO terms

Biological Process

No terms assigned in this category.

Molecular Function

No terms assigned in this category.

Cellular Component

GO:0005764 lysosome

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
Pfam
PANTHER