Ceroid-Lipofuscinosis, Neuronal 8 (Epilepsy, Progressive with Mental Retardation) (CLN8) (N-Term) Peptide
CLN8
Reactivité: Humain
Hôte: Synthetic
BP, WB
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- Antigène Tous les produits CLN8
- CLN8 (Ceroid-Lipofuscinosis, Neuronal 8 (Epilepsy, Progressive with Mental Retardation) (CLN8))
- Protein Region
- N-Term
- Origine
- Humain
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Source
- Synthetic
- Application
- Blocking Peptide (BP), Western Blotting (WB)
- Attributs du produit
- This is a synthetic peptide designed for use in combination with anti-CLN8 antibody (Catalog #: ARP49408_P050). It may block above mentioned antibody from binding to its target protein in western blot and/or immunohistochecmistry under proper experimental settings. There is no guarantee for its use in other applications.
- Purification
- Purified
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- Indications d'application
- Each Investigator should determine their own optimal working dilution for specific applications.
- Restrictions
- For Research Use only
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- Format
- Lyophilized
- Reconstitution
- Add 100 μL of sterile PBS. Final peptide concentration is 1 mg/mL in PBS.
- Concentration
- 1 mg/mL
- Buffer
- Final peptide concentration is 1 mg/mL in PBS.
- Conseil sur la manipulation
- Avoid repeated freeze-thaw cycles.
- Stock
- -20 °C
- Stockage commentaire
- For longer periods of storage, store at -20°C. Avoid repeat freeze-thaw cycles.
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- Antigène
- CLN8 (Ceroid-Lipofuscinosis, Neuronal 8 (Epilepsy, Progressive with Mental Retardation) (CLN8))
- Synonymes
- mnd Peptide, C8orf61 Peptide, EPMR Peptide, CLN8, transmembrane ER and ERGIC protein Peptide, ceroid-lipofuscinosis, neuronal 8 Peptide, CLN8 Peptide, Cln8 Peptide
- Sujet
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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.
Alias Symbols: C8orf61, EPMR, FLJ39417
Protein Size: 286 - Poids moléculaire
- 33 kDa
- ID gène
- 2055
- NCBI Accession
- NM_018941, NP_061764
- UniProt
- Q9UBY8
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