Molecular weight (DA)
31kD
Immunogen
Synthesized peptide derived from human protein . at AA range: 231-280
Specificity
CLN8 Polyclonal Antibody detects endogenous levels of protein.
Formulation
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
Dilution rate
WB 1:500-2000 ELISA 1:5000-20000
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
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],
Function
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
Protein name
Protein CLN8
Human protein sequence Database
Q9UBY8
Mouse protein sequence database
Q9QUK3
Rat protein sequence database
Q6AYM9
Cellular localization
Endoplasmic reticulum membrane ; Multi-pass membrane protein . Endoplasmic reticulum-Golgi intermediate compartment membrane ; Multi-pass membrane protein . Endoplasmic reticulum .
Tissue expression
Placenta,Uterus,
Contract Us
Follow Us
Location： 
Specification
成功添加到购物车