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 a disorder characterized by progressive epilepsy with cognitive disabilities (EPMR), 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 2017]
GeneCards Summary for CLN8 Gene
CLN8 (CLN8 Transmembrane ER And ERGIC Protein) is a Protein Coding gene. Diseases associated with CLN8 include Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant and Ceroid Lipofuscinosis, Neuronal, 8. Among its related pathways are Synaptic vesicle cycle. An important paralog of this gene is ENSG00000283239.
UniProtKB/Swiss-Prot Summary for CLN8 Gene
Could play a role in cell proliferation during neuronal differentiation and in protection against cell death.