Gene:
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
Gene ID:
200979
Symbol:
CLN8
Species:
1000
Description:
This gene encodes a putative transmembrane domain protein located in the endoplasmic reticulum (ER). The encoded protein may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with progressive epilepsy with mental retardation (EMPR), which is a subtype of neuronal ceroid lipofuscinoses (NCL).