ceroid-lipofuscinosis neuronal protein 8 (CLN8)

Structure

• does not seem to be N-glycosylated

Compartment

endoplasmic reticulum, Golgi

Pathology

• defects in CLN8 are the cause of
  • neuronal ceroid lipofuscinosis 8 & CLN8 northern epilepsy variant (CLN8NE)

Laboratory

• CLN8 gene mutation

More general terms

• ceroid-lipofuscinosis neuronal protein
• transmembrane 6 protein

Database

• OMIM: https://mirror.omim.org/entry/600143
• OMIM: https://mirror.omim.org/entry/607837
• OMIM: https://mirror.omim.org/entry/610003
• UniProt: http://www.uniprot.org/uniprot/Q9UBY8.html