Full Product Name
BBS13 Antibody
Product Gene Name
anti-BBS13 antibody
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
3D Structure
ModBase 3D Structure for Q9NXB0
Other Notes
Small volumes of anti-BBS13 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.
NCBI/Uniprot data below describe general gene information for BBS13. 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; JBTS28
??[Similar Products]
NCBI Protein Information
Meckel syndrome type 1 protein
UniProt Protein Name
Meckel syndrome type 1 protein
UniProt Gene Name
MKS1??[Similar Products]
NCBI Summary for BBS13
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 BBS13
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.
Research Articles on BBS13
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
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.
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