Reference Gene

Gene name Alias Species Exons Type Paralogs EC number OMIM
CLN8 CLN8 transmembrane ER and ERGIC protein EPMR , TLCD6 , C8orf61 Homo sapiens 6 protein-coding TLCD1 , TLCD2 , TLCD3B , TLCD3A , TLCD4 607837

Summary

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]

GeneOntology

Gene Loss events - CLN8 (1 results)

GL_ID Species Order Gene Loss Mechanism Loss Type Lineage Specific Citation
GL_YOAR0Q Trichechus manatus Sirenia Gene deletion Full No 10.1093/icb/icy004