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HPA002532

Sigma-Aldrich

ANTI-TWNK antibody produced in rabbit

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

Sinónimos:

Anti-C10orf2, Anti-FLJ21832, Anti-IOSCA, Anti-PEO, Anti-PEO1, Anti-TWINKLE, Anti-TWINL, Anti-Progressive external ophthalmoplegia 1 protein, Anti-T7 gp4-like protein with intramitochondrial nucleoid localization, Anti-T7-like mitochondrial DNA helicase, Anti-Twinkle protein, mitochondrial precursor

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About This Item

Código UNSPSC:
12352203
Atlas de proteínas humanas número:
HPA002532
NACRES:
NA.41

origen biológico

rabbit

Nivel de calidad

100

conjugado

unconjugated

forma del anticuerpo

affinity isolated antibody

tipo de anticuerpo

primary antibodies

clon

polyclonal

Línea del producto

Prestige Antibodies® Powered by Atlas Antibodies

Formulario

buffered aqueous glycerol solution

reactividad de especies

human

técnicas

immunohistochemistry: 1:200- 1:500

secuencia del inmunógeno

SKAPEFEDSEEVRRIWNRAIPLWELPDQEEVQLADTMFGLTKVTDDTLKRFSVRYLRPARSLVFPWFSPGGSGLRGLKLLEAKCQGDGVSYEETTIPRPSAYHNLFGLPLISRRDAEVVLTSRELDSLALNQSTG

Condiciones de envío

wet ice

temp. de almacenamiento

−20°C

modificación del objetivo postraduccional

unmodified

Información sobre el gen

human ... C10orf2(56652)

Categorías relacionadas

Inmunógeno

twinkle mtDNA helicase recombinant protein epitope signature tag (PrEST)

Aplicación

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.

Acciones bioquímicas o fisiológicas

C10orf2, a twinkle protein, encodes a mitochondrial primase-helicase essential for the mitochondrial DNA replication. It has been reported that it can inefficiently unwinds intermolecular and intramolecular G-quadruplex DNA structure. Recessive C10orf2 mutation causes infantile-onset spinocerebellar ataxia (IOSCA) with sensorimotor polyneuropathy and myopathy. It is also associated with the hepatocerebral syndrome, and autosomal dominant PEO (adPEO).

Características y beneficios

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.

Ligadura / enlace

Corresponding Antigen APREST86625

Forma física

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

Información legal

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

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Código de clase de almacenamiento

10 - Combustible liquids

Clase de riesgo para el agua (WGK)

WGK 1

Punto de inflamabilidad (°F)

Not applicable

Punto de inflamabilidad (°C)

Not applicable

Equipo de protección personal

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

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Certificados de análisis (COA)

Lot/Batch Number
A08742
R04026
R004026

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Visite la Librería de documentos

Hiroyuki Morino et al.
Neurology, 83(22), 2054-2061 (2014-10-31)
To identify the genetic cause in 2 families of progressive ataxia, axonal neuropathy, hyporeflexia, and abnormal eye movements, accompanied by progressive hearing loss and ovarian dysgenesis, with a clinical diagnosis of Perrault syndrome. Whole-exome sequencing was performed to identify causative
Mi-Hyun Park et al.
Neurogenetics, 15(3), 171-182 (2014-05-13)
Recessive mutations in chromosome 10 open reading frame 2 (C10orf2) are relevant in infantile-onset spinocerebellar ataxia (IOSCA). In this study, we investigated the causative mutation in a Korean family with combined phenotypes of IOSCA, sensorimotor polyneuropathy, and myopathy. We investigated
Sanjay Kumar Bharti et al.
The Journal of biological chemistry, 289(43), 29975-29993 (2014-09-07)
Mitochondrial DNA deletions are prominent in human genetic disorders, cancer, and aging. It is thought that stalling of the mitochondrial replication machinery during DNA synthesis is a prominent source of mitochondrial genome instability; however, the precise molecular determinants of defective
Viktoriya Peeva et al.
Nature communications, 9(1), 1727-1727 (2018-05-02)
Emerging gene therapy approaches that aim to eliminate pathogenic mutations of mitochondrial DNA (mtDNA) rely on efficient degradation of linearized mtDNA, but the enzymatic machinery performing this task is presently unknown. Here, we show that, in cellular models of restriction

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