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Merck
CN

HPA021812

Sigma-Aldrich

Anti-MKS1 antibody produced in rabbit

enhanced validation

Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution, Ab2

别名:

Anti-Meckel syndrome type 1 protein

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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

增强验证

independent
Learn more about Antibody Enhanced Validation

技术

immunoblotting: 0.04-0.4 μg/mL
immunohistochemistry: 1:50-1:200

免疫原序列

TCTTKSLAMDKVAHFSYPFTFEAFFLHEDESSDALPEWPVLYCEVLSLDFWQRYRVEGYGAVVLPATPGSHTLTVSTWRPVELGTVA

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 ... MKS1(54903)

一般描述

MKS1 (Meckel syndrome, type 1) is a novel evolutionarily conserved cytosolic protein localized in basal bodies. Its expression has been found in the brain, liver, kidney and the cartilage tissue of the developing upper limbs. It is mapped on chromosome 17q22.

免疫原

Meckel syndrome type 1 protein recombinant protein epitope signature tag (PrEST)

应用

Anti-MKS1 antibody produced in rabbit, a Prestige Antibody, is developed and validated by the Human Protein Atlas (HPA) project . Each antibody is tested by immunohistochemistry against hundreds of normal and disease tissues. These images can be viewed on the Human Protein Atlas (HPA) site by clicking on the Image Gallery link. The antibodies are also tested using immunofluorescence and western blotting. To view these protocols and other useful information about Prestige Antibodies and the HPA, visit sigma.com/prestige.
Applications in which this antibody has been used successfully, and the associated peer-reviewed papers, are given below.
Immunofluorescence (1 paper)

生化/生理作用

MKS1 (Meckel syndrome, type 1) plays a vital role in the primary ciliary movement by functioning as a major component of the “B9” or “Tectonic” complex located at the ciliary transition region. Mutations in the MKS1 gene causes an autosomal recessive disorder, Meckel-Gruber syndrome (MKS), characterized with defects in central nervous system, cystic kidney dysplasia, hepatobiliary ductal plate malformation, and postaxial polydactyly.

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 APREST75585

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

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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Rachaneekorn Tammachote et al.
Human molecular genetics, 18(17), 3311-3323 (2009-06-12)
Meckel syndrome (MKS) is a lethal disorder characterized by renal cystic dysplasia, encephalocele, polydactyly and biliary dysgenesis. It is highly genetically heterogeneous with nine different genes implicated in this disorder. MKS is thought to be a ciliopathy because of the
Marta Romani et al.
Orphanet journal of rare diseases, 9, 72-72 (2014-06-03)
Joubert syndrome is a clinically and genetically heterogeneous ciliopathy characterized by a typical cerebellar and brainstem malformation (the "molar tooth sign"), and variable multiorgan involvement. To date, 24 genes have been found mutated in Joubert syndrome, of which 13 also
B Auber et al.
Clinical genetics, 72(5), 454-459 (2007-10-16)
Meckel-Gruber syndrome (MKS) is an autosomal recessive disorder causing severe defects in the developing central nervous system and other organs. Recently, mutations in the MKS1 gene have been identified as disease causing in individuals of Finnish MKS families. The primary
Valeska Frank et al.
Human mutation, 28(6), 638-639 (2007-04-18)
Meckel-Gruber syndrome (MKS) is an autosomal recessive, usually lethal multisystemic disorder characterized by early developmental anomalies of the central nervous system, cystic kidney dysplasia, hepatobiliary ductal plate malformation, and postaxial polydactyly. Three MKS loci have been mapped and recently, two
Helen R Dawe et al.
Human molecular genetics, 16(2), 173-186 (2006-12-23)
Meckel-Gruber syndrome (MKS) is an autosomal recessive lethal malformation syndrome characterized by renal cystic dysplasia, central nervous system malformations (typically, posterior occipital encephalocele), and hepatic developmental defects. Two MKS genes, MKS1 and MKS3, have been identified recently. The present study

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