ceroid-lipofuscinosis neuronal protein 5 (CLN5)

Structure

glycosylated

Compartment

lysosome

Expression

ubiquitous

Pathology

• defects in CLN5 are the cause of infantile ceroid lipofuscinosis neuronal 5

Laboratory

• CLN5 gene mutation

More general terms

• ceroid-lipofuscinosis neuronal protein
• glycoprotein

Additional terms

• infantile neuronal ceroid lipofuscinosis 5 (Finnish variant, late-infantile neuronal ceroid lipofuscinosis)

Database

• OMIM: https://mirror.omim.org/entry/256731
• OMIM: https://mirror.omim.org/entry/608102
• UniProt: http://www.uniprot.org/uniprot/O75503.html