Rabbit Polyclonal Anti-KCTD7 antibody (STJ98856)

$99.00$319.00

Reactivity: Human, Mouse, Rat
Applications: WB, ELISA
Conjugation: Unconjugated
Supplier: St John’s Laboratory Ltd.

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Rabbit Polyclonal Anti-KCTD7 antibody (STJ98856)

Supplier: St John’s Laboratory Ltd.

Recommended applications: WB, ELISA

Recommended dilution: WB 1:500-2000; ELISA 1:5000-20026

Recommended protocols: check protocols

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SCBT cat No:

Name

Anti-KCTD7 antibody

Catalogue No.

STJ98856

Reactivity

Human, Mouse, Rat

Specificity

Anti-KCTD7 antibody detects endogenous levels of KCTD7.

Immunogen

Synthesized peptide derived from Human KCTD7 at AA range: 181-230.

Host

Rabbit

Applications

WB, ELISA

Recommended dilution

WB 1:500-2000; ELISA 1:5000-20026

Clonality

Polyclonal

Conjugation

Unconjugated

Isotype

IgG

Formulation

Anti-KCTD7 antibody was tube-contained in liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

Concentration

1 mg/ml

Purification

Anti-KCTD7 antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

Storage

-20 Celsius degree. Avoid repeated freeze/thaw cycles.

Database links

UniProt/Swiss-Prot:Q96MP8

Protein function

May be involved in the control of excitability of cortical neurons. .

Involvement in disease

Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3) [MIM:611726]: An autosomal recessive, severe, progressive myoclonic epilepsy with early onset. Multifocal myoclonic seizures begin between 16 and 24 months of age after normal initial development. Neurodegeneration and regression occur with seizure onset. Other features include mental retardation, dysarthria, truncal ataxia, and loss of fine finger movements. EEG shows slow dysrhythmia, multifocal and occasionally generalized epileptiform discharges. In some patients, ultrastructural findings on skin biopsies identify intracellular accumulation of autofluorescent lipopigment storage material, consistent with neuronal ceroid lipofuscinosis. . Note=The disease is caused by mutations affecting the gene represented in this entry.; Note=Defects in KCTD7 are a cause of opsoclonus-myoclonus ataxia-like syndrome. Opsoclonus myoclonus ataxia syndrome (OMS) is a rare pervasive and frequently permanent disorder that usually develops in previously healthy children with normal premorbid psychomotor development and characterized by association of abnormal eye movements (opsoclonus), severe dyskinesia (myoclonus), cerebellar ataxia, functional regression, and behavioral problems. The syndrome is considered to be an immune-mediated disorder and may be tumor-associated or idiopathic. OMS is one of a few steroid responsive disorders of childhood. KCTD7 mutations have been found in a patient with an atypical clinical presentation characterized by non-epileptic myoclonus and ataxia commencing in early infancy, abnormal opsoclonus-like eye movements, improvement of clinical symptoms under steroid treatment, and subsequent development of generalized epilepsy (PubMed:22638565). .

Protein sequence and domain

Contains 1 BTB (POZ) domain.

Protein cellular localization

Cell membrane. Cytoplasm, cytosol.

Note

AntibodyPlus can customize Anti-KCTD7 antibody according to your requirement, including bulk product size,etc. Please contact info@antibodyplus.com. AntibodyPlus provide antibody trial sample for your own antibody validation and collects antibody reviews.

Supplier

St John’s Laboratory Ltd.

Product type

Primary antibody

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