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cln8

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Official Full Name
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
Background
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.
Synonyms
CLN8; ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation); C8orf61, chromosome 8 open reading frame 61 , EPMR; protein CLN8; FLJ39417; EPMR; C8orf61; ceroid-lipofuscinosis, neuronal 8; zgc:172202