CLN8 Rabbit Polyclonal Antibody

CAT#: TA331068

Rabbit polyclonal Anti-CLN8 Antibody

Product Images

WB Suggested Anti-CLN8 Antibody Titration: 0.2-1 ug/ml; ELISA Titer: 1:12500; Positive Control: Hela cell lysate

Specifications

Product Data

• Applications: WB
• Recommended Dilution: WB
• Reactivities: Human
• Host: Rabbit
• Isotype: IgG
• Clonality: Polyclonal
• Immunogen: The immunogen for anti-CLN8 antibody: synthetic peptide directed towards the N terminal of human CLN8. Synthetic peptide located within the following region: MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLN
• Formulation: Liquid. Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
  Note that this product is shipped as lyophilized powder to China customers.
• Purification: Affinity Purified
• Conjugation: Unconjugated
• Storage: Store at -20°C as received.
• Stability: Stable for 12 months from date of receipt.
• Predicted Protein Size: 33 kDa
• Gene Name: ceroid-lipofuscinosis, neuronal 8
• Database Link:
  NP_061764
  Entrez Gene 2055 Human
  UniProt ID Q9UBY8
• 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.
• Synonyms: C8orf61; EPMR
• Note: Dog: 100%; Horse: 100%; Human: 100%; Mouse: 100%; Pig: 86%; Guinea pig: 86%; Rat: 82%

Reference Data

• Protein Families: Druggable Genome, Transmembrane