基因名称(Gene Name)
CLN8 C8orf61
免疫原
Synthesized peptide derived from human protein . at AA range: 231-280
特异性
CLN8 Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
其他名称
ANXA7; ANX7; SNX; OK/SW-cl.95; Annexin A7; Annexin VII; Annexin-7; Synexin
背景
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],
功能
disease:Defects in CLN8 are the cause of neuronal ceroid lipofuscinosis 8 (CLN8) [MIM:600143]. Childhood-onset neuronal ceroid lipofuscinoses (NCL) are a group of autosomal recessive progressive encephalopathies characterized by the accumulation of autofluorescent material, mainly ATP synthase subunit C, in various tissues, notably in neurons. Based on clinical features, the country of origin of patients, and the molecular genetic background of the disorder, at least seven different forms are thought to exist. CLN8 is characterized by normal early development, onset of generalized seizures between 5 and 10 years, and subsequent progressive mental retardation.,disease:Defects in CLN8 are the cause of progressive epilepsy with mental retardation (EPMR) [MIM:610003]; also called Northern epilepsy variant of neuronal ceroid lipofuscinosis 8. EPMR is a form of NCL so far described only in Fin
