Species Human Entrez 2055 | Human Mouse Ensembl n/a | |
Aliases CLN8, C8orf61, EPMR, ceroid-lipofuscinosis, neuronal 8 External IDs MGI: 1349447 HomoloGene: 10340 GeneCards: CLN8 | ||
Protein CLN8 is a protein that in humans is encoded by the CLN8 gene.
Contents
Molecular biology
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.
Clinical
Mutations in this gene are associated with progressive epilepsy with mental retardation (EPMR), a subtype of neuronal ceroid lipofuscinosis (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain.
References
CLN8 Wikipedia(Text) CC BY-SA