Product Name
BBS13 (MKS1), Polyclonal Antibody
Popular Item
Product Gene Name
anti-MKS1 antibody
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
3D Structure
ModBase 3D Structure for Q9NXB0
Species Reactivity
Human, Mouse, Rat
Immunogen
Recombinant Protein
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.
Product Categories/Family for anti-MKS1 antibody
Polyclonal
Applications Tested/Suitable for anti-MKS1 antibody
Western Blot (WB), Immunohistochemistry (IHC), Immunofluorescence (IF), Immunoprecipitation (IP)
Western Blot (WB) of anti-MKS1 antibody
Western blot analysis of extracts of various cell lines, using MKS1 antibody at 1:1000 dilution.
Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (MBS128200) at 1:10000 dilution.
Lysates/proteins: 25ug per lane.
Blocking buffer: 3% nonfat dry milk in TBST.
Detection: ECL Basic Kit.
Exposure time: 30s.
NCBI/Uniprot data below describe general gene information for MKS1. It may not necessarily be applicable to this product.
NCBI Accession #
Q9NXB0.2
[Other Products]
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
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; FABB proteome-like protein; POC12 centriolar protein homolog
UniProt Protein Name
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
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.
It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
