mnd antikoerper, C8orf61 antikoerper, EPMR antikoerper, CLN8, transmembrane ER and ERGIC protein antikoerper, ceroid-lipofuscinosis, neuronal 8 antikoerper, CLN8 antikoerper, Cln8 antikoerper
Hintergrund
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 progressive epilepsy with mental retardation (EMPR), 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.,CLN8,C8orf61,EPMR,Cancer,Signal Transduction,Endocrine & Metabolism,Lipid Metabolism,Neuroscience,Neurodegenerative Diseases,CLN8