CLN8, Official Symbol CLN8provided by HGNC Official Full Name CLN8 transmembrane ER and ERGIC proteinprovided by HGNC Primary source HGNC:HGNC:2079 See related Ensembl:ENSG00000182372 MIM:607837; AllianceGenome:HGNC:2079 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EPMR; TLCD6; C8orf61 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] Expression Ubiquitous expression in brain (RPKM 5.7), spleen (RPKM 4.0) and 25 other tissues See more Orthologs mouse all