Full Product Name
MKS1 Antibody
Product Gene Name
anti-MKS1 antibody
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Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Species Reactivity
Human
Predicted: Mouse, Rat
Form/Format
Purified by protein affinity column containing 1% BSA and 0.02% NaN3
Preparation and Storage
Already reconstituted in 200ul sterile H2O. The antibody is stable for at least one year when stored at-20 degree C after reconstitution. Avoid repeated freeze/defrost cycles.
Other Notes
Small volumes of anti-MKS1 antibody 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
anti-MKS1 antibody
Rabbit polyclonal MKS1 (1) antibody was raised against a recombinate human MKS1 protein 6-162aa (BC010061).
Applications Tested/Suitable for anti-MKS1 antibody
ELISA (EIA), Western Blot (WB), Immunohistochemistry (IHC)
Application Notes for anti-MKS1 antibody
ELISA: 1:20,000-1:80,000
WB: 1:200-1:1,000
IHC: 1:100-1:500
Testing Data of anti-MKS1 antibody
Testing Data of anti-MKS1 antibody
NCBI/Uniprot data below describe general gene information for MKS1. It may not necessarily be applicable to this product.
NCBI Accession #
NP_001317326.1
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NCBI GenBank Nucleotide #
NM_001330397.1
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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 5
NCBI Official Synonym Full Names
Meckel syndrome, type 1
NCBI Official Symbol
MKS1??[Similar Products]
NCBI Official Synonym Symbols
MES; MKS; BBS13; POC12; JBTS28
??[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]
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
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.
Product References and Citations for anti-MKS1 antibody
(1) Otto, E.A., Ramaswami, G., Janssen, S., et al. Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. J. Med. Genet. 48 (2), 105-116 (2011).
Research Articles on MKS1
1. we have described a pathogenic variant in the MKS1 resulting in a mild Joubert syndrome phenotype, which broadens the spectrum of mutations in the MKS1.
Precautions
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Disclaimer
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