Ceroid-Lipofuscinosis, Neuronal 8 (Epilepsy, Progressive with Mental Retardation) (CLN8) (N-Term) antibody

Details for Product No. ABIN406046
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Antigen
Synonyms mnd, C8orf61, EPMR
Epitope
N-Term
(8), (7), (3), (2)
Reactivity
Dog (Canine), Human
(24), (13), (13), (12), (12), (1)
Host
Rabbit
(26)
Clonality
Polyclonal
Conjugate
Un-conjugated
(2), (2), (2), (1), (1), (1), (1), (1), (1), (1), (1), (1), (1), (1)
Application
Western Blotting (WB)
(17), (10), (6), (3)
Pubmed 1 reference available
Quantity 50 µg
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Catalog No. ABIN406046
289.00 $
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Immunogen Synthetic peptide directed towards the N terminal of human CLN8
Sequence MNPASDGGTS ESIFDLDYAS WGIRSTLMVA GFVFYLGVFV VCHQLSSSLN
Predicted Reactivity Dog : 100 %, Horse : 100 %, Human : 100 %
Characteristics This is a rabbit polyclonal antibody against CLN8. It was validated on Western Blot using a cell lysate as a positive control.
Purification Affinity Purified
Alternative Name CLN8
Background 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.
Molecular Weight 33 kDa
Gene ID 2055
NCBI Accession NP_061764, NM_018941
UniProt Q9UBY8
Research Area Signaling, Metabolism
Application Notes Optimal working dilutions should be determined experimentally by the investigator.
Comment

Antigen size: 286 AA

Restrictions For Research Use only
Format Lyophilized
Reconstitution Add 50 µL of distilled water.
Concentration 1 mg/mL
Buffer PBS buffer with 2 % sucrose
Handling Advice Avoid repeated freeze-thaw cycles.
Storage -20 °C
Storage Comment For longer periods of storage, store at -20 °C
Supplier Images
anti-Ceroid-Lipofuscinosis, Neuronal 8 (Epilepsy, Progressive with Mental Retardation) (CLN8) (N-Term) antibody WB Suggested Anti-CLN8 Antibody Titration: 0.2-1 ug/ml
ELISA Titer: 1:12500
Positive Control: Hela cell lysate
Background publications Hermansson, Käkelä, Berghäll et al.: "Mass spectrometric analysis reveals changes in phospholipid, neutral sphingolipid and sulfatide molecular species in progressive epilepsy with mental retardation, EPMR, brain: a case study." in: Journal of neurochemistry, Vol. 95, Issue 3, pp. 609-17, 2005 (PubMed).

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