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Merck
CN

HPA003628

Sigma-Aldrich

Anti-TIMM8A antibody produced in rabbit

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

别名:

Anti-Deafness dystonia protein 1 antibody produced in rabbit, Anti-Mitochondrial import inner membrane translocase subunit Tim8 A antibody produced in rabbit, Anti-X-linked deafness dystonia protein antibody produced in rabbit

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关于此项目

UNSPSC代码:
12352203
人类蛋白质图谱编号:
NACRES:
NA.41
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生物来源

rabbit

质量水平

偶联物

unconjugated

抗体形式

affinity isolated antibody

抗体产品类型

primary antibodies

克隆

polyclonal

产品线

Prestige Antibodies® Powered by Atlas Antibodies

表单

buffered aqueous glycerol solution

种属反应性

human

技术

immunofluorescence: 0.25-2 μg/mL
immunohistochemistry: 1:50-1:200

免疫原序列

GLGAVDPQLQHFIEVETQKQRFQQLVHQMTELCWEKCMDKPGPKLDSRAEACFVNCVERFIDTSQFILNRLEQTQKSK

UniProt登记号

运输

wet ice

储存温度

−20°C

靶向翻译后修饰

unmodified

基因信息

human ... TIMM8A(1678)

免疫原

Mitochondrial import inner membrane translocase subunit Tim8 A recombinant protein epitope signature tag (PrEST)

应用

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.

生化/生理作用

Mitochondrial import inner membrane translocase subunit Tim8 A is an enzyme encoded by the TIMM8A gene in humans. It encodes an evolutionarily conserved novel polypeptide necessary for normal human neurological development. Mutation in this gene causes deafness-dystonia-optic neuronopathy (DDON) syndrome. It is a rare X-linked recessive neurological disorder that is involved in the transport and sorting of proteins to the mitochondrial inner membrane.

特点和优势

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.

外形

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

其他说明

Corresponding Antigen APREST74536

法律信息

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

免责声明

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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储存分类代码

10 - Combustible liquids

WGK

WGK 1

闪点(°F)

Not applicable

闪点(°C)

Not applicable

个人防护装备

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

法规信息

新产品

历史批次信息供参考:

分析证书(COA)

Lot/Batch Number

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H Jin et al.
Nature genetics, 14(2), 177-180 (1996-10-01)
In 1960, progressive sensorineural deafness (McKusick 304,700, DFN-1) was shown to be X-linked based on a description of a large Norwegian pedigree. More recently, it was shown that this original DFN-1 family represented a new type of recessive neurodegenerative syndrome
Margaret P Adam et al.
GeneReviews(?), 2003 Feb 06 (Updated 2013 Jan 31) (2013-01-31)
Males with deafness-dystonia-optic neuronopathy (DDON) syndrome have prelingual or postlingual sensorineural hearing impairment in early childhood, slowly progressive dystonia or ataxia in the teens, slowly progressive decreased visual acuity from optic atrophy beginning approximately age 20 years, and dementia beginning
José Rafael Blesa et al.
Neuromolecular medicine, 9(4), 285-291 (2007-11-14)
The deafness-dystonia syndrome (DDS) or Mohr-Tranebjaerg syndrome (MTS, MIM 304700) is a rare X-linked recessive neurological disorder resulting from loss-of-function mutations in the nuclear DDP1/TIMM8A gene, involved in the transport and sorting of proteins to the mitochondrial inner membrane. A

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