CLN8 anticorps

N° du produit ABIN2459283

Cet anticorps anti-CLN8 Polyclonal Lapin (ABIN2459283) détecte spécifiquement CLN8 dans WB et ELISA. L’anticorps est réactif avec des échantillons de Humain et Chien.

Aperçu rapide pour CLN8 anticorps (ABIN2459283)

Antigène: CLN8 (Ceroid-Lipofuscinosis, Neuronal 8 (Epilepsy, Progressive with Mental Retardation) (CLN8))

Reactivité: Humain, Chien

Hôte: Lapin

Clonalité: Polyclonal

Conjugué: Cet anticorp CLN8 est non-conjugé

Application: Western Blotting (WB), ELISA

Détail du produit anti-CLN8 anticorps

Purification: Antibody is purified by peptide affinity chromatography method.

Immunogène: Antibody produced in rabbits immunized with a synthetic peptide corresponding a region of human CLN8.

Information d'application

Indications d'application: 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 μg/mL, and HRP conjugated secondary antibody should be diluted 1:50,000 - 100,000.

Restrictions: For Research Use only

Stockage

Format: Lyophilized

Reconstitution: Add 50 ?L of distilled water. Final antibody concentration is 1 mg/mL.

Concentration: 1 mg/mL

Buffer: Antibody is lyophilized in PBS buffer with 2 % sucrose.

Conseil sur la manipulation: As with any antibody avoid repeat freeze-thaw cycles.

Stock: 4 °C/-20 °C

Stockage commentaire: For short periods of storage (days) store at 4 °C. For longer periods of storage, store CLN8 antibody at -20 °C.

Détails sur CLN8

Antigène: CLN8 (Ceroid-Lipofuscinosis, Neuronal 8 (Epilepsy, Progressive with Mental Retardation) (CLN8))

Autre désignation: CLN8

Sujet: 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.

Poids moléculaire: 33 kDa

ID gène: 2055

NCBI Accession: NP_061764

UniProt: Q9UBY8

Pathways: Regulation of Cell Size, Dicarboxylic Acid Transport