Background:ceroid-lipofuscinosis, neuronal 8(CLN8) Homo sapiens 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. [provided by RefSeq, Jul 2008],
仕様
サイズ:100ul
Source:Rabbit
Applications:WB,ELISA
Species reactivity:Human
Immunogen:Synthesized peptide derived from human protein . at AA range: 231-280
Purification:The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.