SAB2100448

Anti-CLN8 (ab1) antibody produced in rabbit

affinity isolated antibody

• Synonyme(s) : Anti-C8orf61, Anti-Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation), Anti-EPMR, Anti-FLJ39417
• Code UNSPSC : 12352203
• Nomenclature NACRES : NA.41

Propriétés

• Source biologique: rabbit
• Niveau de qualité: 100
• Conjugué: unconjugated
• Forme d'anticorps: affinity isolated antibody
• Type de produit anticorps: primary antibodies
• Clone: polyclonal
• Forme: buffered aqueous solution
• Poids mol.: 33 kDa
• Espèces réactives: dog, human, horse
• Concentration: 0.5 mg - 1 mg/mL
• Technique(s): western blot: suitable
• Numéro d'accès UniProt: Q9UBY8
• Conditions d'expédition: wet ice
• Température de stockage: −20°C
• Modification post-traductionnelle de la cible: unmodified
• Informations sur le gène: human ... CLN8(2055)

Description

Immunogène

Synthetic peptide directed towards the N terminal region of human CLN8

Actions biochimiques/physiologiques

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.

Séquence

Synthetic peptide located within the following region: MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLN

Forme physique

Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.

Clause de non-responsabilité

Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.

Informations sur la sécurité

• Code de la classe de stockage: 10 - Combustible liquids
• Classe de danger pour l'eau (WGK): WGK 3
• Point d'éclair (°F): Not applicable
• Point d'éclair (°C): Not applicable