Full Product Name
MKS1 Antibody (N-Term)
Product Synonym Names
Purified Rabbit Polyclonal Antibody (Pab); Meckel syndrome type 1 protein; MKS1
Product Gene Name
anti-MKS1 antibody
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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
This MKS1 antibody is generated from a rabbit immunized with a KLH conjugated synthetic peptide between 38-72 amino acids from the human region of human MKS1.
Purity/Purification
Purified through a protein A column, followed by peptide affinity purification.
Form/Format
Supplied in PBS with 0.09% (W/V) sodium azide.
Antigen Type
Synthesized Peptide
Cellular Location
Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme.
Preparation and Storage
Maintain refrigerated at 2-8 degree C for up to 2 weeks.
For long term storage store at -20 degree C in small aliquots to prevent freeze-thaw 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
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 Categories/Family for anti-MKS1 antibody
Primary Antibodies
Applications Tested/Suitable for anti-MKS1 antibody
Flow Cytometry (FC/FACS), Western Blot (WB), ELISA (EIA)
Application Notes for anti-MKS1 antibody
WB: 1:2000
Western Blot (WB) of anti-MKS1 antibody
Anti-MKS1 Antibody (N-Term) at 1:2000 dilution + Human lung lysate
Lysates/proteins at 20 ug per lane.
Secondary
Goat Anti-Rabbit IgG, (H+L), Peroxidase conjugated at 1/10000 dilution.
Predicted band size : 65 kDa
Blocking/Dilution buffer: 5% NFDM/TBST.

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
[Other Products]
UniProt Secondary Accession #
Q284T0; Q96G13; B7WNX4; F5H885[Other Products]
UniProt Related Accession #
Q9NXB0[Other Products]
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; 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
Kyttaelae M.,et al.Nat. Genet. 38:155-157(2006). Ota T.,et al.Nat. Genet. 36:40-45(2004). Zody M.C.,et al.Nature 440:1045-1049(2006). Ebert L.,et al. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases. Dawe H.R.,et al.Hum. Mol. Genet. 16:173-186(2007).
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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