anti-CLN8 Antibody

• Catalog number
  26-399
• Price
  Please ask
• Size
  50 ug

• Gene info
  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.
• Gene names
  CLN8, C8orf61, EPMR, FLJ39417
• Antibodie s label
  unlabelled serum
• Purity
  Antibody is purified by peptide affinity chromatography method.
• Ab raised in
  Rabbit
• Type
  Polyclonal
• Antigen
  Antibody produced in rabbits immunized with a synthetic peptide corresponding a region of human CLN8.
• Immuno application
  ELISA, Western Blot
• Antibody advice
  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 ug/mL, and HRP conjugated secondary antibody should be diluted 1:50,000 - 100,000.
• Suspention pH azide
  Antibody is lyophilized in PBS buffer with 2% sucrose. Add 50 μL of distilled water. Final antibody concentration is 1 mg/mL.
• Keep at
  For short periods of storage (days) store at 4 grades C. For longer periods of storage, store CLN8 antibody at -20 grades C. As with any antibody avoid repeat freeze-thaw cycles.
• Works with
  Human, Dog
• Omim nr
  31083053
• Ncbi nr
  NP_061764
• KDa
  33 kDa
• Vial with antibody
  Lyophilized
• Quantity per ml
  1 mg/ml
• NCBI GENE nr
  2055
• GENE symbol
  CLN8
• Antigene name
  ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
• Source
  Homo sapiens
• Protein nr
  Q9UBY8
• Picture
• Pdf tech file
• More antibodies
• Description
  This antibody needs to be stored at + 4°C in a fridge short term in a concentrated dilution. Freeze thaw will destroy a percentage in every cycle and should be avoided. Antibody for research use.
• Properties
  If you buy Antibodies supplied by proscience they should be stored frozen at - 24°C for long term storage and for short term at + 5°C.
• French translation
  anticorps

• Gene target
  CLN8  
• Gene symbol
  CLN8-AS1, CLN8
• Short name
  anti-CLN8 Antibody
• Technique
  Antibody, anti-, anti, antibody to, antibodies, antibodies against human proteins, antibodies for
• Alternative name
  Antibody toCLN8 (antibody to-)
• Alternative technique
  antibodies
• Alternative to gene target
  ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation), C8orf61 and EPMR, CLN8 and IDBG-5421 and ENSG00000182372 and 2055, Plasma membranes, Cln8 and IDBG-136384 and ENSMUSG00000026317 and 26889, CLN8 and IDBG-628376 and ENSBTAG00000008584 and 530874

Gene info

• Identity
  HGNC:55523
• Gene
  CLN8-AS1
• Long gene name
  CLN8 antisense RNA 1
• Locus
  8p23.3
• Discovery year
  2021-03-18
• Entrez gene record
  101927752
• RefSeq identity
  • NR_134303
• Classification
  • Antisense RNAs

Gene info

• Identity
  HGNC:2079
• Gene
  CLN8
• Long gene name
  CLN8 transmembrane ER and ERGIC protein
• Synonyms gene
  • EPMR
  • C8orf61
• Synonyms gene name
  • chromosome 8 open reading frame 61
  • epilepsy, progressive with mental retardation
  • ceroid-lipofuscinosis, neuronal 8
  • CLN8, transmembrane ER and ERGIC protein
• Synonyms
  • FLJ39417
  • TLCD6
• GenBank acession
  • AF123761
• Locus
  8p23.3
• Discovery year
  1993-12-15
• Entrez gene record
  2055
• Pubmed identfication
  • 10508524
  • 23160995
• RefSeq identity
  • NM_018941
• Classification
  • TLC domain containing
• VEGA ID
  OTTHUMG00000090343
• Locus Specific Databases
  • Neuronal Ceroid Lipofuscinoses; NCL Mutations
  • LRG_691

MeSH Data

• Name
  Blotting, Western
• Concept
  Scope note: Identification of proteins or peptides that have been electrophoretically separated by blot transferring from the electrophoresis gel to strips of nitrocellulose paper, followed by labeling with antibody probes.
• Tree numbers
  • E05.196.401.143
  • E05.301.300.096
  • E05.478.566.320.200
  • E05.601.262
  • E05.601.470.320.200
• Qualifiers
  ethics, trends, veterinary, history, classification, economics, instrumentation, methods, standards, statistics & numerical data

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