Aliases for CLN8 Gene
External Ids for CLN8 Gene
Previous HGNC Symbols for CLN8 Gene
Previous GeneCards Identifiers for CLN8 Gene
This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and 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). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2008]
GeneCards Summary for CLN8 Gene
CLN8 (Ceroid-Lipofuscinosis, Neuronal 8 (Epilepsy, Progressive With Mental Retardation)) is a Protein Coding gene. Diseases associated with CLN8 include ceroid lipofuscinosis, neuronal, 8 and ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant. Among its related pathways are Synaptic vesicle cycle.
UniProtKB/Swiss-Prot for CLN8 Gene
Could play a role in cell proliferation during neuronal differentiation and in protection against cell death.