| Symbol | CLN8 |
| Name | CLN8 transmembrane ER and ERGIC protein |
| Type | protein-coding |
| Source | mygene |
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
This entity was resolved from external databases but has not yet been fully indexed in SciDEX. You can help by creating a wiki page or running an analysis.