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

General

ceroid-lipofuscinosis neuronal protein transmembrane 6 protein

Properties

SIZE: MW = 33 kD entity length = 286 aa COMPARTMENT: golgi endoplasmic reticulum MOTIF: transmembrane domain {21-41} transmembrane domain {62-84} transmembrane domain {103-123} transmembrane domain {131-151} transmembrane domain {226-246}

Database Correlations

OMIM correlations MORBIDMAP 607837 UniProt Q9UBY8

References

UniProt :accession Q9UBY8