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Merck
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Key Documents

HPA007927

Sigma-Aldrich

Anti-SPTAN1 antibody produced in rabbit

enhanced validation

Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution

Sinonimo/i:

Anti-Alpha-II spectrin, Anti-Fodrin alpha chain, Anti-Spectrin alpha chain, brain, Anti-Spectrin, non-erythroid alpha chain

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About This Item

Codice UNSPSC:
12352203
Numero Human Protein Atlas:

Origine biologica

rabbit

Livello qualitativo

Coniugato

unconjugated

Forma dell’anticorpo

affinity isolated antibody

Tipo di anticorpo

primary antibodies

Clone

polyclonal

Nome Commerciale

Prestige Antibodies® Powered by Atlas Antibodies

Forma fisica

buffered aqueous glycerol solution

Reattività contro le specie

human

Convalida avanzata

orthogonal RNAseq
Learn more about Antibody Enhanced Validation

tecniche

immunoblotting: 0.04-0.4 μg/mL
immunofluorescence: 0.25-2 μg/mL
immunohistochemistry: 1:200-1:500

Sequenza immunogenica

HQEFKSCLRSLGYDLPMVEEGEPDPEFEAILDTVDPNRDGHVSLQEYMAFMISRETENVKSSEEIESAFRALSSEGKPYVTKEELYQNLTREQADYCVSHMKPYVDGKGRELPTAFDYVEFTRSLF

N° accesso UniProt

Condizioni di spedizione

wet ice

Temperatura di conservazione

−20°C

modifica post-traduzionali bersaglio

unmodified

Informazioni sul gene

human ... SPTAN1(6709)

Immunogeno

Spectrin alpha chain, brain recombinant protein epitope signature tag (PrEST)

Applicazioni

All Prestige Antibodies Powered by Atlas Antibodies are developed and validated by the Human Protein Atlas (HPA) project and as a result, are supported by the most extensive characterization in the industry.

The Human Protein Atlas project can be subdivided into three efforts: Human Tissue Atlas, Cancer Atlas, and Human Cell Atlas. The antibodies that have been generated in support of the Tissue and Cancer Atlas projects have been tested by immunohistochemistry against hundreds of normal and disease tissues and through the recent efforts of the Human Cell Atlas project, many have been characterized by immunofluorescence to map the human proteome not only at the tissue level but now at the subcellular level. These images and the collection of this vast data set can be viewed on the Human Protein Atlas (HPA) site by clicking on the Image Gallery link. We also provide Prestige Antibodies® protocols and other useful information.

Azioni biochim/fisiol

SPTAN1 (spectrin, α, non-erythrocytic 1) gene encodes an alpha spectrin that is exclusively expressed in nonerythrocytic cells. It encodes a filamentous cytoskeletal protein that is involved in the regulation of axonal structure stability. The gene is mapped to human chromosome 9q34.11, a region encompassing STXBP1, SPTAN1, ENG, and TOR1A genes. Deletion in this region range in size from 67kb to 2.8Mb. Deletions in SPTAN1 gene have been implicated in early infantile epileptic encephalopathy, infantile spasms, intellectual disability, and hypomyelination. Defects in this gene can also cause early onset West syndrome with widespread brain volume reduction and coloboma-like optic discs. The encoded protein is found to be expressed in fetal retina and brain.

Caratteristiche e vantaggi

Prestige Antibodies® are highly characterized and extensively validated antibodies with the added benefit of all available characterization data for each target being accessible via the Human Protein Atlas portal linked just below the product name at the top of this page. The uniqueness and low cross-reactivity of the Prestige Antibodies® to other proteins are due to a thorough selection of antigen regions, affinity purification, and stringent selection. Prestige antigen controls are available for every corresponding Prestige Antibody and can be found in the linkage section.

Every Prestige Antibody is tested in the following ways:
  • IHC tissue array of 44 normal human tissues and 20 of the most common cancer type tissues.
  • Protein array of 364 human recombinant protein fragments.

Linkage

Corresponding Antigen APREST71129

Stato fisico

Solution in phosphate-buffered saline, pH 7.2, containing 40% glycerol and 0.02% sodium azide

Note legali

Prestige Antibodies is a registered trademark of Merck KGaA, Darmstadt, Germany

Esclusione di responsabilità

Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.

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Raccomandato

Codice della classe di stoccaggio

10 - Combustible liquids

Classe di pericolosità dell'acqua (WGK)

WGK 1

Punto d’infiammabilità (°F)

Not applicable

Punto d’infiammabilità (°C)

Not applicable

Dispositivi di protezione individuale

Eyeshields, Gloves, multi-purpose combination respirator cartridge (US)


Certificati d'analisi (COA)

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Karin Writzl et al.
Epilepsia, 53(6), e106-e110 (2012-03-21)
Recent study has shown that mutations in the alpha-II-spectrin (SPTAN1) gene cause early onset intractable seizures, severe developmental delay, diffuse hypomyelination, and widespread brain atrophy. We report a Slovene girl with hypotonia, lack of visual attention, early onset epileptic encephalopathy
Ian M Campbell et al.
Genetics in medicine : official journal of the American College of Medical Genetics, 14(10), 868-876 (2012-06-23)
A number of genes in the 9q34.11 region may be haploinsufficient. However, studies analyzing genotype-phenotype correlations of deletions encompassing multiple dosage-sensitive genes in the region are lacking. We mapped breakpoints of 10 patients with 9q34.11 deletions using high-resolution 9q34-specific array
Fadi F Hamdan et al.
European journal of human genetics : EJHG, 20(7), 796-800 (2012-01-20)
Heterozygous in-frame mutations (p.E2207del and p.R2308_M2309dup) in the α-II subunit of spectrin (SPTAN1) were recently identified in two patients with intellectual disability (ID), infantile spasms (IS), hypomyelination, and brain atrophy. These mutations affected the C-terminal domain of the protein, which

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