Full Product Name
MKS1 siRNA (Human)
Product Synonym Names
Meckel syndrome type 1 protein
Product Gene Name
MKS1 sirna
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Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
3D Structure
ModBase 3D Structure for Q9NXB0
Specificity
MKS1 siRNA (Human) is a target-specific 19-23 nt siRNA oligo duplexes designed to knock down gene expression.
Purity/Purification
> 97%
Form/Format
Lyophilized powder
Quality Control
Oligonucleotide synthesis is monitored base by base through trityl analysis to ensure appropriate coupling efficiency. The oligo is subsequently purified by affinity-solid phase extraction. The annealed RNA duplex is further analyzed by mass spectrometry to verify the exact composition of the duplex. Each lot is compared to the previous lot by mass spectrometry to ensure maximum lot-to-lot consistency.
Directions for Use
We recommends transfection with 100 nM siRNA 48 to 72 hours prior to cell lysis. Before resuspending, briefly centrifuge the tube to ensure the lyophilized siRNA is at the bottom of the tube. Resuspend the siRNA oligos to an appropriate concentration with DEPC water. For each vial, suitable for 250 transfections in 24 well plate (20 pmol for each well).
Components
We offer pre-designed sets of 3 different target-specific siRNA oligo duplexes of human MKS1 gene. Each vial contains 5 nmol of lyophilized siRNA. The duplexes can be transfected individually or pooled together to achieve knockdown of the target gene, which is most commonly assessed by qPCR or western blot. Our siRNA oligos are also chemically modified (2'-OMe) at no extra charge for increased stability and enhanced knockdown in vitro and in vivo.
Preparation and Storage
Shipped at 4 degree C. Store at -20 degree C for one year.
Negative Control
siRNA Negative Control (Catalog# MBS8241404) is a non-targeting 21 nt siRNA recommended as a negative control for experiments using targeted siRNA transfection.
Other Notes
Small volumes of MKS1 sirna vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
Related Product Information for
MKS1 sirna
siRNA to inhibit MKS1 expression using RNA interference
Applications Tested/Suitable for MKS1 sirna
RNA Interference (RNAi)
NCBI/Uniprot data below describe general gene information for MKS1. It may not necessarily be applicable to this product.
NCBI Accession #
NP_001159399.1
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NCBI GenBank Nucleotide #
NM_001165927.1
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UniProt Primary Accession #
Q9NXB0
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UniProt Secondary Accession #
Q284T0; Q96G13; B7WNX4; F5H885[Other Products]
UniProt Related Accession #
Q9NXB0[Other Products]
Molecular Weight
63,344 Da
NCBI Official Full Name
Meckel syndrome type 1 protein isoform 2
NCBI Official Synonym Full Names
Meckel syndrome, type 1
NCBI Official Symbol
MKS1??[Similar Products]
NCBI Official Synonym Symbols
MES; MKS; BBS13; POC12
??[Similar Products]
NCBI Protein Information
Meckel syndrome type 1 protein
UniProt Protein Name
Meckel syndrome type 1 protein
Protein Family
Meckel syndrome type 1 protein
UniProt Gene Name
MKS1??[Similar Products]
UniProt Entry Name
MKS1_HUMAN
NCBI Summary for MKS1
The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
UniProt Comments for MKS1
MKS1: Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology. Defects in MKS1 are the cause of Meckel syndrome type 1 (MKS1). MKS1 is an autosomal recessive disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Defects in MKS1 are the cause of Bardet-Biedl syndrome type 13 (BBS13). Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, autosomal recessive disorder characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. A relatively high incidence of BBS is found in the mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, most likely due to the high rate of consaguinity in these populations and a founder effect. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Unknown function
Chromosomal Location of Human Ortholog: 17q22
Cellular Component: centriole; centrosome; membrane; cytoplasm; cytosol
Molecular Function: protein binding
Biological Process: branching morphogenesis of a tube; organelle organization and biogenesis; cilium biogenesis
Disease: Bardet-biedl Syndrome 13; Meckel Syndrome, Type 1
Research Articles on MKS1
1. describe four patients with mild Joubert phenotypes who carry pathogenic mutations in either MKS1 or B9D1, two genes previously implicated only in Meckel syndrome
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
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