KCTD7 Antibody, HRP conjugated

Code CSB-PA850395LB01HU
Size US$166
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Product Details

Full Product Name
Rabbit anti-Homo sapiens (Human) KCTD7 Polyclonal antibody
Uniprot No.
Target Names
KCTD7
Alternative Names
KCTD7 antibody; BTB/POZ domain-containing protein KCTD7 antibody
Raised in
Rabbit
Species Reactivity
Human
Immunogen
Recombinant Human BTB/POZ domain-containing protein KCTD7 protein (5-152AA)
Immunogen Species
Homo sapiens (Human)
Conjugate
HRP
Clonality
Polyclonal
Isotype
IgG
Purification Method
>95%, Protein G purified
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
Form
Liquid
Tested Applications
ELISA
Protocols
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

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Target Background

Function
May be involved in the control of excitability of cortical neurons.
Gene References into Functions
  1. KCTD7 has an impact on K+ fluxes, neurotransmitter synthesis and neuronal function, and that malfunction of the encoded protein may lead to progressive myoclonus epilepsy. PMID: 27742667
  2. reviews the phenotype of progressive myoclonic epilepsy associated with KCTD7 mutations [review] PMID: 27629772
  3. This study identified that novel KCTD7 mutation in patients with progressive myoclonus epilepsy with ataxia. PMID: 25060828
  4. The KCTD7 gene, previously associated with progressive myoclonus epilepsies (PMEs) in a single inbred family, was screened for mutations in 18 Turkish PME patients. PMID: 22693283
  5. this study clearly demonstrates that KCTD7 mutations also cause a rare, infantile-onset NCL subtype designated as CLN14. PMID: 22748208
  6. We found a C to T mutation in exon 2 of the potassium channel tetramerization domain containing 7 gene(KCTD7)in a progressive myoclonic epilepsy family affecting a highly conserved segment of the predicted protein changing an arginine codon to a stop. PMID: 17455289

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Involvement in disease
Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3)
Subcellular Location
Cell membrane. Cytoplasm, cytosol.
Database Links

HGNC: 21957

OMIM: 611725

KEGG: hsa:154881

UniGene: Hs.546627

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