CLN8 is 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. Childhood-onset 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.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.
Gene names
CLN8, C8orf61, EPMR, FLJ39417
Antibodie's label
unlabelled serum
Purity
Antibody is purified by peptide affinity chromatography method.
Ab raised in
Rabbit
Type
Polyclonal
Antigen
Antibody produced in rabbits immunized with a synthetic peptide corresponding a region of human CLN8.
Immuno application
ELISA, Western Blot
Antibody advice
CLN8 antibody can be used for detection of CLN8 by ELISA at 1:12500. CLN8 antibody can be used for detection of CLN8 by western blot at 1 ug/mL, and HRP conjugated secondary antibody should be diluted 1:50,000 - 100,000.
Suspention, pH, azide
Antibody is lyophilized in PBS buffer with 2% sucrose. Add 50 μL of distilled water. Final antibody concentration is 1 mg/mL.
Keep at
For short periods of storage (days) store at 4 grades C. For longer periods of storage, store CLN8 antibody at -20 grades C. As with any antibody avoid repeat freeze-thaw cycles.
Works with
Human, Dog
Omim nr
31083053
Ncbi nr
NP_061764
KDa
33 kDa
Vial with antibody
Lyophilized
Quantity per ml
1 mg/ml
NCBI GENE nr
2055
GENE symbol
CLN8
Antigene name
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
Source
Homo sapiens
Protein nr
Q9UBY8
Description
This antibody needs to be stored at + 4°C in a fridge short term in a concentrated dilution. Freeze thaw will destroy a percentage in every cycle and should be avoided.
Properties
If you buy Antibodies supplied by proscience they should be stored frozen at - 24°C for long term storage and for short term at + 5°C.
